Unique variants in the BRCA2 gene

Information The variants shown are described using the NM_000059.3 transcript reference sequence.

170 entries on 2 pages. Showing entries 1 - 100.
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Effect     
Reported     
Exon     
AscendingDNA change (cDNA)     
Published as     
RNA change     
Protein     
GVS function     
Clinical classification     
DNA change (genomic) (hg38)     
Published as     
Reference     
DB-ID     
dbSNP ID     
Frequency     
Variant remarks     
Owner     
?/. 1 2 c.-32142499G>A - r.(=) p.(=) - - g.173208G>A - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174) BRCA2_000096 rs281864846 3/26 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.-39-1_-39del c.-39-1_-39delGA r.spl? p.? - Likely pathogenic g.32316421_32316422del c.-39-1_-39delGA Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000140 rs758732038 1/1726 - Nuur Athirah Binti Mohd Daud
-/. 2 - c.68-7T>A - r.(=) p.(=) - ClinVar, ClinVar g.32319070T>A - E Thirthagiri et al. (2008), dbSNP, ClinVar, Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000039 rs81002830 4/2076 - MyHVP, Nuur Athirah Binti Mohd Daud
./., ?/. 2 -, 3 c.215A>G - r.(?) p.(Asn72Ser) - ClinVar g.32319224A>G - E Thirthagiri et al. (2008), dbSNP, ClinVar, Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000013 rs276174818 1/1215 - MyHVP, Nuur Athirah Binti Mohd Daud
+/. 2 - c.262_263del - r.(?) p.(Leu88Alafs*12) - Pathogenic, ClinVar g.32319271_32319272del - Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar, Timothy R Rebbeck et al.(2018) BRCA2_000067 rs276174825 5/8, 8/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 4 13, 3 c.262_263delCT - r.(?) p.(Leu88Alafs*12) frameshift pathogenic, ClinVar g.32319271_32319272delCT - Ava Kwong et al.(2016), E Thirthagiri et al. (2008), dbSNP, ClinVar, Wen WX, et al.(2018), 1 more item BRCA2_000001 rs276174825 7/16, 7/490 Mutation type: Deletion - frameshift MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
-/. 1 10 c.317-1875G>A - r.(=) p.(=) - ClinVar g.32323201G>A - E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA2_000018 rs55953893 - - MyHVP
-/. 2 -, 5 c.440A>G - r.(?) p.(Gln147Arg) - ClinVar, ClinVar g.32326115A>G - E Thirthagiri et al. (2008), dbSNP, ClinVar, Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000014 rs80358674 12/1218 - MyHVP, Nuur Athirah Binti Mohd Daud
-/. 1 - c.516+18T>C - r.(=) p.(=) - ClinVar g.32326300T>C - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000081 rs81002834 8/1207 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.582G>A - r.(?) p.(Trp194*) - ClinVar g.32326564G>A - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000059 rs80358810 1/15 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.631+1G>A - r.spl? p.? - Pathogenic g.32326614G>A - Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0033), ClinVar BRCA2_000141 rs81002897 1/1726 - Nuur Athirah Binti Mohd Daud
-/. 1 - c.631+541T>C - r.(=) p.(=) - ClinVar g.32327154T>C - E Thirthagiri et al.(2008)dbSNPClinVar BRCA2_000044 rs115974024 - - MyHVP
+/. 1 - c.755_758del - r.(?) p.(Asp252Valfs*24) - ClinVar g.32330992_32330995del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000060 rs80359659 1/15 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.774_775del - r.(?) p.(Glu260Serfs*15) - Pathogenic g.32331011_32331012del - Timothy R Rebbeck et al.(2018) BRCA2_000124 rs75096777 1/64 families - Nur Aisyah Athirah
+/. 2 9 c.774_775delAA - r.(?) p.(Glu260Serfs*15) - Pathogenic g.32331011_32331012delAA - Ava Kwong et al.(2016), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000131 rs75096777 1/1726 Mutation type: Deletion - frameshift Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 3 10 c.809C>G - r.(?) p.(Ser270*) - Pathogenic g.32332287C>G - Ava Kwong et al.(2016), Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000125 rs276174902 2/1726, 2/64 families Mutation type: Nonsense Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/., -/. 2 10 c.865A>C c.856A>C r.(?) p.(Asn289His) - Benign, ClinVar g.32332343A>C - Mohamed Saleem et al.(2018), Toh GT et al.(2008), dbSNP, ClinVar BRCA2_000046 rs766173 - - MyHVP, Nur Aisyah Athirah
+/., ./., ?/. 3 -, 10 c.943T>A - r.(?) p.(Cys315Ser) - Benign/Likely benign, ClinVar, ClinVar g.32332421T>A - E Thirthagiri et al. (2008), dbSNP, ClinVar, Kah Nyin Lai et al. (2017), dbSNP, ClinVar, 1 more item BRCA2_000041 rs79483201 18/2055 - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 3 10 c.956dupA - r.(?) p.(Asn319Lysfs*8) - Pathogenic, ClinVar g.32332434dupA - Ava Kwong et al.(2016), E Thirthagiri et al. (2008), dbSNP, ClinVar, 1 more item BRCA2_000002 rs80359770 1/1726 Mutation type: Insertion - frameshift MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 10 c.956_957insA - r.(?) p.(Asn319Lysfs*8) - - g.32332434_32332435insA - Hanis Nazihah Hasmad et al. (2016) BRCA2_000093 - 1/3 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.1114A>C - r.(?) p.(Asn372His) - Benign g.32332592A>C - Mohamed Saleem et al.(2018) BRCA2_000138 rs144848 - - Nur Aisyah Athirah
-/. 1 10 c.1275A>G - r.(=) p.(=) - ClinVar g.32332753A>G - E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA2_000015 rs34355306 - - MyHVP
?/. 1 10 c.1342C>T - r.(?) p.(Arg448Cys) - ClinVar g.32332820C>T - Toh GT et al.(2008), dbSNP, ClinVar BRCA2_000047 rs80358422 - - MyHVP
-/. 1 10 c.1362A>G - r.(=) p.(=) - ClinVar g.32332840A>G - ClinVarClinVarE Thirthagiri et al. (2008), dbSNP, ClinVar BRCA2_000042 rs55919657 - - MyHVP
-/. 1 10 c.1365A>G - r.(=) p.(=) - ClinVar g.32332843A>G - Toh GT et al.(2008), dbSNP, ClinVar BRCA2_000048 rs1801439 - - MyHVP
-/. 1 10 c.1644G>A - r.(=) p.(=) - ClinVar g.32333122G>A - E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA2_000017 rs55986646 - - MyHVP
+/. 1 - c.1763_1766del - r.(?) p.(Asn588Serfs*25) - ClinVar g.32333241_32333244del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000061 rs80359303 1/15 - Nuur Athirah Binti Mohd Daud
+/. 2 - c.1773_1776del c.1773_1776delTTAT r.(?) p.(Ile591Metfs*22) - Pathogenic g.32333251_32333254del c.1773_1776delTTAT Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000097 rs80359304 1/1726, 1/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 10 c.1773_1776delTTAT - r.(?) p.(Ile591Metfs*22) - Pathogenic, ClinVar g.32333251_32333254delTTAT - Ava Kwong et al.(2016), E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA2_000003 rs80359304 - Mutation type: Deletion - frameshift MyHVP, Nur Aisyah Athirah
+/. 1 10 c.1813dupA - r.(?) p.(Ile605Asnfs*11) - Pathogenic g.32333291dupA - Ava Kwong et al.(2016) BRCA2_000129 rs80359306 - Mutation type: Insertion - frameshift Nur Aisyah Athirah
?/. 1 - c.1825C>G - r.(?) p.(Gln609Glu) - ClinVar g.32333303C>G - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000070 rs80358472 2/1218 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.1855C>T - r.(?) p.(Gln619*) - Pathogenic g.32333333C>T - Timothy R Rebbeck et al.(2018) BRCA2_000098 rs80358476 1/64 families - Nur Aisyah Athirah
+/. 1 - c.1888dup - r.(?) p.(Thr630Asnfs*6) - ClinVar g.32333366dup - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000062 rs80359314 1/15 - Nuur Athirah Binti Mohd Daud
./. 1 - c.2186T>C - r.(?) p.(Ile729Thr) - ClinVar g.32336541T>C - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000071 rs431825296 1/1213 - Nuur Athirah Binti Mohd Daud
+/., -/. 2 11 c.2229T>C - r.(=) p.(=) - Benign, ClinVar g.32336584T>C - Mohamed Saleem et al.(2018), Toh GT et al.(2008), dbSNP, ClinVar BRCA2_000049 rs1801499 - - MyHVP, Nur Aisyah Athirah
+/. 1 - c.2442del - r.(?) p.(Met815Trpfs*10) - ClinVar g.32336797del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000063 rs397507627 1/15 - Nuur Athirah Binti Mohd Daud
+/. 2 - c.2471_2476del 2471_2476delTAAATG r.(?) p.(Leu824*) - Pathogenic g.32336826_32336831del 2471_2476delTAAATG Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000099 rs276174823 1/490, 1/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 11 c.2471_2476delTAAATG - r.(?) p.(Leu824*) - Pathogenic, ClinVar g.32336826_32336831delTAAATG - dbSNPE Thirthagiri et al. (2008), dbSNP, ClinVar, Ava Kwong et al.(2016) BRCA2_000004 rs276174823, rs886040427 - Mutation type: Deletion - frameshift MyHVP, Nur Aisyah Athirah
+/. 2 - c.2595del 2595delA r.(?) p.(Glu866Lysfs*8) - Pathogenic g.32336950del 2595delA Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000100 rs483353111 1/1726, 1/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.2612C>A - r.(?) p.(Ser871*) - Pathogenic g.32336967C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000142 rs397507634 1/1726 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.2636_2637del - r.(?) p.(Ser879*) - Pathogenic g.32336991_32336992del - Timothy R Rebbeck et al.(2018) BRCA2_000101 rs276174826 1/64 families - Nur Aisyah Athirah
+/. 2 11 c.2636_2637delCT - r.(?) p.(Ser879*) - Pathogenic, ClinVar g.32336991_32336992delCT - Ava Kwong et al.(2016), E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA2_000005 rs276174826 - Mutation type: Deletion - frameshift MyHVP, Nur Aisyah Athirah
+/. 4 -, 11 c.2808_2811del 2808_2811delACAA r.(?) p.(Ala938Profs*21) - Pathogenic, ClinVar g.32337163_32337166del 2808_2811delACAA Hanis Nazihah Hasmad et al. (2016), dbSNP, (OMIM 0016), ClinVar, Timothy R Rebbeck et al.(2018), 2 more items BRCA2_000068 rs80359351 1/2, 2/1726, 2/19, 3/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 11 c.2808_2811delACAA - r.(?) p.(Ala938Profs*21) - Pathogenic g.32337163_32337166delACAA - Ava Kwong et al.(2016) BRCA2_000132 rs80359351 - Mutation type: Deletion - frameshift Nur Aisyah Athirah
+/. 3 11 c.2830A>T - r.(?) p.(Lys944*) - Pathogenic g.32337185A>T - Ava Kwong et al.(2016), Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000102 rs80358533 1/1726, 1/64 families Mutation type: Nonsense Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
?/. 1 11 c.2860_2862delGAG - r.(?) p.(Glu954del) - ClinVar g.32337215_32337217delGAG - Toh GT et al.(2008) dbSNP, ClinVar BRCA2_000045 rs80359360 - - MyHVP
+/., -/. 2 11 c.2971A>G - r.(?) p.(Asn991Asp) - Benign, ClinVar g.32337326A>G - Mohamed Saleem et al.(2018), Toh GT et al.(2008), dbSNP ,ClinVar BRCA2_000050 rs1799944 - - MyHVP, Nur Aisyah Athirah
+/. 6 -, 11 c.3109C>T - r.(?) p.(Gln1037*) - Pathogenic, ClinVar g.32337464C>T - Ava Kwong et al.(2016), P S Ng et al. (2016), dbSNP, ClinVar, Timothy R Rebbeck et al.(2018), 3 more items BRCA2_000054 rs80358557 1/15, 1/1726, 2/8, 3/64 families Mutation type: Nonsense MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.3391A>G - r.(?) p.(Arg1131Gly) missense Uncertain significance​ g.32337746A>G - Wei Xiong Wen et al. (2018), ClinVar BRCA2_000156 - 1/1726 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud
+/., -/. 2 11 c.3396A>G - r.(=) p.(=) - Benign, ClinVar g.32337751A>G - Mohamed Saleem et al.(2018), Toh GT et al.(2008)dbSNP BRCA2_000051 rs1801406 - - MyHVP, Nur Aisyah Athirah
-/. 1 11 c.3420T>C - r.(=) p.(=) - ClinVar g.32337775T>C - E Thirthagiri et al. (2008)dbSNP BRCA2_000021 rs118093942 - - MyHVP
+/., ./., ?/. 3 -, 11 c.3445A>G - r.(?) p.(Met1149Val) - Uncertain significance, ClinVar g.32337800A>G - E Thirthagiri et al. (2008)dbSNP, Kah Nyin Lai et al. (2017), dbSNP, ClinVar, 1 more item BRCA2_000022 rs80358589 7/1215 - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.3569G>T - r.(?) p.(Arg1190Leu) missense Uncertain significance​ g.32337924G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000161 rs80358605 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud
+/. 1 - c.3599_3600del - r.(?) p.(Cys1200*) - Pathogenic g.32337954_32337955del - Timothy R Rebbeck et al.(2018) BRCA2_000103 rs80359391 1/64 families - Nur Aisyah Athirah
+/. 1 11 c.3599_3600delGT - r.(?) p.(Cys1200*) - Pathogenic g.32337954_32337955delGT - Ava Kwong et al.(2016) BRCA2_000133 rs80359391 - Mutation type: Deletion - frameshift Nur Aisyah Athirah
-?/. 1 11 c.3675A>G - r.(=) p.(=) - ClinVar g.32338030A>G - E Thirthagiri et al. (2008)dbSNP BRCA2_000023 rs276174835 - - MyHVP
+/. 1 - c.3680_3681del 3680_3681delTG r.(?) p.(Leu1227Glnfs*5) frameshift Pathogenic g.32338035_32338036del 3680_3681delTG Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000159 rs80359395 1/490 - Nuur Athirah Binti Mohd Daud
?/. 1 11 c.3782C>G - r.(?) p.(Ser1261Cys) - ClinVar g.32338137C>G - E Thirthagiri et al. (2008)dbSNP BRCA2_000024 rs276174836 - - MyHVP
+/., -/. 2 11 c.3807T>C - r.(=) p.(=) - Benign, ClinVar g.32338162T>C - Mohamed Saleem et al.(2018), Toh GT et al.(2008)dbSNP BRCA2_000052 rs543304 - - MyHVP, Nur Aisyah Athirah
+/. 1 11 c.3821delA - r.(?) p.(Lys1274Argfs*2) - - g.32338176delA - Hanis Nazihah Hasmad et al. (2016) BRCA2_000090 - 1/2 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.3847_3848del 3847_3848delGT r.(?) p.(Val1283Lysfs*2) - Pathogenic g.32338202_32338203del 3847_3848delGT Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000143 rs80359405 1/1726 - Nuur Athirah Binti Mohd Daud
+/. 2 - c.3865_3868del 3865_3868delAAAT r.(?) p.(Lys1289Alafs*3) frameshift Pathogenic g.32338220_32338223del 3865_3868delAAAT Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000104 rs80359412 1/359, 1/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 11 c.3865_3868delAAAT - r.(?) p.(Lys1289Alafs*3) - Pathogenic g.32338220_32338223delAAAT - Ava Kwong et al.(2016) BRCA2_000130 rs80359412 - Mutation type: Deletion - frameshift Nur Aisyah Athirah
+/. 1 - c.3922G>T - r.(?) p.(Glu1308*) - Pathogenic g.32338277G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000144 rs80358638 1/1726 - Nuur Athirah Binti Mohd Daud
+/. 2 - c.3957_3958del 3957_3958delTG r.(?) p.(Asn1319Lysfs*3) - Pathogenic g.32338312_32338313del 3957_3958delTG Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000105 rs886040504 1/1726, 1/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 11 c.3957_3958delTG - r.(?) p.(Asn1319Lysfs*3) - ClinVar g.32338312_32338313delTG - P S Ng et al. (2016), dbSNP, ClinVar BRCA2_000083 rs886040504 1/8 - Nuur Athirah Binti Mohd Daud
+/. 2 - c.4003G>T - r.(?) p.(Glu1335*) - Pathogenic g.32338358G>T - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000106 rs747070579 1/359, 1/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.4014_4015insGG - r.(?) p.(Ser1339Glyfs*36) - Pathogenic g.32338369_32338370insGG - Timothy R Rebbeck et al.(2018) BRCA2_000107 rs276174839 1/64 families - Nur Aisyah Athirah
+/. 2 - c.4037_4038del 4037_4038delCT r.(?) p.(Thr1346Serfs*5) frameshift Pathogenic g.32338392_32338393del 4037_4038delCT Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000108 rs80359421 2/490, 2/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 11 c.4037_4038delCT - r.(?) p.(Thr1346Serfs*5) - Pathogenic, ClinVar g.32338392_32338393delCT - Ava Kwong et al.(2016), E Thirthagiri et al. (2008)dbSNP BRCA2_000006 rs80359421 - Mutation type: Deletion - frameshift MyHVP, Nur Aisyah Athirah
./. 1 - c.4376A>G - r.(?) p.(Asn1459Ser) - ClinVar g.32338731A>G - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000072 rs117187202 5/2087 - Nuur Athirah Binti Mohd Daud
+/. 2 - c.4467_4474delinsTGTTTTT - r.(?) p.(Lys1489Asnfs*15) - Pathogenic g.32338822_32338829delinsTGTTTTT - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000109 rs886040533 1/1726, 1/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 - c.4525C>T - r.(?) p.(Gln1509*) - Pathogenic g.32338880C>T - Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000110 rs80358683 1/1726, 1/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 11 c.4578A>G - r.(=) p.(=) - Benign g.32338933A>G - Mohamed Saleem et al.(2018) BRCA2_000139 rs202022822 - - Nur Aisyah Athirah
+/. 1 11 c.4587dupG - r.(?) p.(Lys1530Glufs*4) - ClinVar g.32338942dupG - Toh GT et al.(2008)dbSNP BRCA2_000055 rs745456776 - - MyHVP
+/- 1 - c.4779A>C - r.(?) p.(Glu1593Asp) - ClinVar g.32339134A>C - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000073 rs80358703 6/2088 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.4799del - r.(?) p.(Asn1600Metfs*17) - Pathogenic g.32339154del - Timothy R Rebbeck et al.(2018) BRCA2_000111 rs886040550 1/64 families - Nur Aisyah Athirah
+/. 1 11 c.4799delA - r.(?) p.(Asn1600Metfs*17) - ClinVar g.32339154delA - P S Ng et al. (2016), dbSNP, ClinVar BRCA2_000084 rs886040550 1/8 - Nuur Athirah Binti Mohd Daud
?/. 1 11 c.4806A>G - r.(=) p.(=) - - g.32339161A>G - E Thirthagiri et al. (2008) BRCA2_000043 rs41258306 - - MyHVP
+/. 1 - c.4872_4873delTG - r.(?) p.(Glu1625Lysfs*13) - - g.32339227_32339228delTG - Wei Xiong Wen et al. (2018) BRCA2_000145 - 1/1726 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.5047C>T - r.(?) p.(Gln1683*) - Pathogenic g.32339402C>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000166 rs1555284044 1/359 - Nuur Athirah Binti Mohd Daud
+/. 2 11 c.5073dup - r.(?) p.(Trp1692Metfs*3) - Pathogenic, ClinVar g.32339428dup - Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar, Timothy R Rebbeck et al.(2018) BRCA2_000094 rs80359479 1/3, 3/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 2 11 c.5073dupA - r.(?) p.(Trp1692Metfs*3) - Pathogenic g.32339428dupA - Ava Kwong et al.(2016), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000134 rs80359479 1/1726 Mutation type: Insertion - frameshift Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.5164_5165del - r.(?) p.(Ser1722Tyrfs*4) - Pathogenic g.32339519_32339520del - Timothy R Rebbeck et al.(2018) BRCA2_000112 rs80359490 1/64 families - Nur Aisyah Athirah
+/. 1 11 c.5164_5165delAG - r.(?) p.(Ser1722Tyrfs*4) - ClinVar g.32339519_32339520delAG - P S Ng et al. (2016), dbSNP, ClinVar BRCA2_000085 rs80359490 1/8 - Nuur Athirah Binti Mohd Daud
?/. 1 11 c.5167A>C - r.(?) p.(Thr1723Pro) - ClinVar g.32339522A>C - E Thirthagiri et al. (2008)dbSNP BRCA2_000025 rs80358742 - - MyHVP
./. 1 - c.5167A>G - r.(?) p.(Thr1723Ala) - ClinVar g.32339522A>G - Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000074 rs80358742 1/1214 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.5213_5216del 5213_5216delCTTA r.(?) p.(Thr1738Ilefs*2) frameshift Pathogenic g.32339568_32339571del 5213_5216delCTTA Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000167 rs80359493 1/359 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.5238dup - r.(?) p.(Asn1747*) - Pathogenic g.32339593dup - Timothy R Rebbeck et al.(2018) BRCA2_000113 rs80359499 1/64 families - Nur Aisyah Athirah
./. 1 11 c.5301_5302insA - r.(?) p.(Leu1768Thrfs*2) - - g.32339656_32339657insA - Toh GT et al.(2008) BRCA2_000056 - - - MyHVP
+/., -/. 3 -, 11 c.5312G>A - r.(?) p.(Gly1771Asp) - Benign, ClinVar g.32339667G>A - E Thirthagiri et al. (2008)dbSNP, Kah Nyin Lai et al. (2017), dbSNP, ClinVar, 1 more item BRCA2_000026 rs80358755 1/2054 - MyHVP, Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.5353_5354del - r.(?) p.(Thr1785*) - ClinVar g.32339708_32339709del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA2_000064 rs397507780 3/15 - Nuur Athirah Binti Mohd Daud
+/. 3 - c.5576_5579del 5576_5579delTTAA r.(?) p.(Ile1859Lysfs*3) - Pathogenic, ClinVar g.32339931_32339934del 5576_5579delTTAA Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar, 1 more item BRCA2_000065 rs80359520 1/15, 1/1726, 1/64 families - Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 11 c.5576_5579delTTAA - r.(?) p.(Ile1859Lysfs*3) - Pathogenic g.32339931_32339934delTTAA - Ava Kwong et al.(2016) BRCA2_000135 rs80359520 - Mutation type: Deletion - frameshift Nur Aisyah Athirah
?/. 1 11 c.5635G>A - r.(?) p.(Glu1879Lys) - ClinVar g.32339990G>A - E Thirthagiri et al. (2008)dbSNP BRCA2_000027 rs55996097 - - MyHVP
+/. 3 11 c.5645C>A - r.(?) p.(Ser1882*) - Pathogenic g.32340000C>A - Ava Kwong et al.(2016), Timothy R Rebbeck et al.(2018), Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000114 rs80358785 1/1726, 1/64 families Mutation type: Nonsense Nuur Athirah Binti Mohd Daud, Nur Aisyah Athirah
+/. 1 - c.5681dupA - r.(?) p.(Tyr1894*) - Pathogenic g.32340036dupA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000146 rs80359527 1/1726 - Nuur Athirah Binti Mohd Daud
+/. 1 - c.5727_5728insG - r.(?) p.(Asn1910Glufs*2) frameshift Pathogenic g.32340082_32340083insG - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000168 rs1593906350 1/359 - Nuur Athirah Binti Mohd Daud
-/. 2 -, 11 c.5785A>G - r.(?) p.(Ile1929Val) - ClinVar g.32340140A>G - E Thirthagiri et al. (2008)dbSNP, Kah Nyin Lai et al. (2017), dbSNP, ClinVar BRCA2_000028 rs79538375 20/1213 - MyHVP, Nuur Athirah Binti Mohd Daud
+/. 1 - c.5967dup - r.(?) p.(Asp1990Argfs*13) - Pathogenic g.32340322dup - Timothy R Rebbeck et al.(2018) BRCA2_000115 rs276174865 1/64 families - Nur Aisyah Athirah
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