Individual #00000426

Reference Wei Xiong Wen et al. (2018)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases BRCA2
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-02-17 15:44:27 +08:00 (CST)
Date last edited 2021-08-01 12:53:47 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000455 DNA MLPA;SEQ-NG-I BRCA2 13 Nuur Athirah Binti Mohd Daud



Variants

13 entries on 1 page. Showing entries 1 - 13.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
13 Unknown +/. g.32319271_32319272delCT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000001 rs276174825 7/490 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.262_263delCT - r.(?) p.(Leu88Alafs*12) frameshift Pathogenic
13 Unknown +/. g.32336826_32336831del 2471_2476delTAAATG Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000099 rs276174823 1/490 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.2471_2476del 2471_2476delTAAATG r.(?) p.(Leu824*) - Pathogenic
13 Unknown +/. 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 BRCA2 - NM_000059.3:c.3569G>T - r.(?) p.(Arg1190Leu) missense Uncertain significance​
13 Unknown +/. g.32338035_32338036del 3680_3681delTG Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000159 rs80359395 1/490 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.3680_3681del 3680_3681delTG r.(?) p.(Leu1227Glnfs*5) frameshift Pathogenic
13 Unknown +/. g.32338392_32338393del 4037_4038delCT Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000108 rs80359421 2/490 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.4037_4038del 4037_4038delCT r.(?) p.(Thr1346Serfs*5) frameshift -
13 Unknown +/. g.32340322dupA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000007 rs276174865 2/490 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5967dupA - r.(?) p.(Asp1990Argfs*13) frameshift Pathogenic
13 Unknown +/. g.32340896G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000119 rs371067421 1/490 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.6541G>T - r.(?) p.(Gly2181*) - Pathogenic
13 Unknown +/. g.32356459dup - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000160 rs397507918 1/490 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7467dup 7467dupT r.(?) p.(Ile2490Tyrfs*7) frameshift Pathogenic
13 Unknown +/. g.32357755G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000164 rs397507926 2/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7631G>A - r.(?) p.(Gly2544Asp) missense Uncertain significance​
13 Unknown +/. g.32357797_32357798delAG - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000137 rs80359672 1/490 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7673_7674delAG - r.(?) p.(Glu2558Valfs*7) frameshift Pathogenic
13 Unknown +/. g.32357911G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000165 rs1064795140 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7787G>T - r.(?) p.(Gly2596Val) missense Uncertain significance​
13 Unknown +/. g.32370995A>T - Wei Xiong Wen et al. (2018) BRCA2_000162 - 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.8527A>T - r.(?) p.(Asn2843Tyr) - -
13 Unknown +/. g.32398370T>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000163 rs398122624 1/490 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9857T>A - r.(?) p.(Ile3286Asn) missense Uncertain significance​
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