Individual #00000431

Reference Wei Xiong Wen et al. (2018)
Gender -
Geographic origin Malaysia
Ethnic origin Indian
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 2021-02-18 14:30:39 +08:00 (CST)
Date last edited 2021-08-01 12:58:02 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000463 DNA MLPA;SEQ-NG-I BRCA2 14 Nuur Athirah Binti Mohd Daud



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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)     

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RNA change     

Protein     

GVS function     

Clinical classification     
13 Unknown +/. g.32338220_32338223del 3865_3868delAAAT Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000104 rs80359412 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.3865_3868del 3865_3868delAAAT r.(?) p.(Lys1289Alafs*3) frameshift Pathogenic
13 Unknown +/. g.32338358G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000106 rs747070579 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.4003G>T - r.(?) p.(Glu1335*) - Pathogenic
13 Unknown +/. g.32339402C>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000166 rs1555284044 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5047C>T - r.(?) p.(Gln1683*) - Pathogenic
13 Unknown +/. g.32339568_32339571del 5213_5216delCTTA Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000167 rs80359493 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5213_5216del 5213_5216delCTTA r.(?) p.(Thr1738Ilefs*2) frameshift Pathogenic
13 Unknown +/. g.32340082_32340083insG - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000168 rs1593906350 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5727_5728insG - r.(?) p.(Asn1910Glufs*2) frameshift Pathogenic
13 Unknown +/. g.32340341G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000075 rs80358833 5/359 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5986G>A - r.(?) p.(Ala1996Thr) missense Likely benign
13 Unknown +/. g.32340437_32340441del 6082_6086delGAAGA Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000095 rs80359558 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.6082_6086del 6082_6086delGAAGA r.(?) p.(Glu2028Lysfs*19) frameshift Pathogenic
13 Unknown +/. g.32340823_32340824dupTC - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000169 rs80359596 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.6468_6469dupTC - r.(?) p.(Gln2157Leufs*12) frameshift Pathogenic
13 Unknown +/. g.32362632C>T - Wei Xiong Wen et al. (2018) BRCA2_000173 - 1/359 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7915C>T - r.(?) p.(Pro2639Ser) - -
13 Unknown +/. g.32363429G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000172 rs397507397 1/359 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.8227G>T - r.(?) p.(Gly2743Cys) missense Uncertain significance​
13 Unknown +/. g.32376739G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000034 rs80359129 1/359 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.8702G>A - r.(?) p.(Gly2901Asp) missense Benign
13 Unknown +/. g.32379431C>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000011 rs276174913 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.8869C>T - r.(?) p.(Gln2957*) - Pathogenic
13 Unknown +/. g.32394703_32394706dupGTCT - Wei Xiong Wen et al. (2018) BRCA2_000170 - 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9271_9274dupGTCT - r.(?) p.(Tyr3092Cysfs*20) - -
13 Unknown +/. g.32394708T>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000171 rs80359197 1/359 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9276T>G - r.(?) p.(Tyr3092*) - Pathogenic
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