Individual #00000414

Reference Wei Xiong Wen et al. (2018)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
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 2021-02-16 08:53:21 +08:00 (CST)
Date last edited 2021-08-01 12:47:52 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000431 DNA MLPA;SEQ-NG-I BRCA2 44 Nuur Athirah Binti Mohd Daud



Variants

44 entries on 1 page. Showing entries 1 - 44.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

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Gene     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
13 Unknown +/. 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 BRCA2 - NM_000059.3:c.-39-1_-39del c.-39-1_-39delGA r.spl? p.? - Likely pathogenic
13 Unknown +/. g.32326614G>A - Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0033), ClinVar BRCA2_000141 rs81002897 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.631+1G>A - r.spl? p.? - Pathogenic
13 Unknown +/. g.32331011_32331012delAA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000131 rs75096777 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.774_775delAA - r.(?) p.(Glu260Serfs*15) - Pathogenic
13 Unknown +/. g.32332287C>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000125 rs276174902 2/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.809C>G - r.(?) p.(Ser270*) - Pathogenic
13 Unknown +/. g.32332434dupA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000002 rs80359770 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.956dupA - r.(?) p.(Asn319Lysfs*8) - Pathogenic
13 Unknown +/. g.32333251_32333254del c.1773_1776delTTAT Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000097 rs80359304 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.1773_1776del c.1773_1776delTTAT r.(?) p.(Ile591Metfs*22) - Pathogenic
13 Unknown +/. g.32336950del 2595delA Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000100 rs483353111 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.2595del 2595delA r.(?) p.(Glu866Lysfs*8) - Pathogenic
13 Unknown +/. g.32336967C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000142 rs397507634 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.2612C>A - r.(?) p.(Ser871*) - Pathogenic
13 Unknown +/. g.32337163_32337166del 2808_2811delACAA Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000068 rs80359351 2/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.2808_2811del 2808_2811delACAA r.(?) p.(Ala938Profs*21) - Pathogenic
13 Unknown +/. g.32337185A>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000102 rs80358533 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.2830A>T - r.(?) p.(Lys944*) - Pathogenic
13 Unknown +/. g.32337464C>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000054 rs80358557 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.3109C>T - r.(?) p.(Gln1037*) - Pathogenic
13 Unknown +/. g.32337746A>G - Wei Xiong Wen et al. (2018), ClinVar BRCA2_000156 - 1/1726 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.3391A>G - r.(?) p.(Arg1131Gly) missense Uncertain significance​
13 Unknown +/. g.32338202_32338203del 3847_3848delGT Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000143 rs80359405 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.3847_3848del 3847_3848delGT r.(?) p.(Val1283Lysfs*2) - Pathogenic
13 Unknown +/. g.32338277G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000144 rs80358638 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.3922G>T - r.(?) p.(Glu1308*) - Pathogenic
13 Unknown +/. g.32338312_32338313del 3957_3958delTG Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000105 rs886040504 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.3957_3958del 3957_3958delTG r.(?) p.(Asn1319Lysfs*3) - Pathogenic
13 Unknown +/. g.32338822_32338829delinsTGTTTTT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000109 rs886040533 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.4467_4474delinsTGTTTTT - r.(?) p.(Lys1489Asnfs*15) - Pathogenic
13 Unknown +/. g.32338880C>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000110 rs80358683 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.4525C>T - r.(?) p.(Gln1509*) - Pathogenic
13 Unknown +/. g.32339227_32339228delTG - Wei Xiong Wen et al. (2018) BRCA2_000145 - 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.4872_4873delTG - r.(?) p.(Glu1625Lysfs*13) - -
13 Unknown +/. g.32339428dupA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000134 rs80359479 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5073dupA - r.(?) p.(Trp1692Metfs*3) - Pathogenic
13 Unknown +/. g.32339931_32339934del 5576_5579delTTAA Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000065 rs80359520 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5576_5579del 5576_5579delTTAA r.(?) p.(Ile1859Lysfs*3) - Pathogenic
13 Unknown +/. g.32340000C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000114 rs80358785 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5645C>A - r.(?) p.(Ser1882*) - Pathogenic
13 Unknown +/. g.32340036dupA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000146 rs80359527 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.5681dupA - r.(?) p.(Tyr1894*) - Pathogenic
13 Unknown +/. g.32340680_32340681delGT - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000008 rs276174871 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.6325_6326delGT - r.(?) p.(Val2109*) - Pathogenic
13 Unknown +/. g.32340760_32340764del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000147 rs80359584 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.6405_6409del - r.(?) p.(Asn2135Lysfs*3) - Pathogenic
13 Unknown +/. g.32340946_32340947del 6591_6592delTG Wei Xiong Wen et al. (2018), dbSNP, (OMIM 0003), ClinVar BRCA2_000148 rs80359605 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.6591_6592del 6591_6592delTG r.(?) p.(Glu2198Asnfs*4) - Pathogenic
13 Unknown +/. g.32341028delA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000009 rs276174875 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.6673delA - r.(?) p.(Thr2225Glnfs*4) - Pathogenic
13 Unknown +/. g.32346896G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000149 rs28897743 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7007G>T - r.(?) p.(Arg2336Leu) - Pathogenic
13 Unknown +/. g.32355232_32355235del - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000150 rs80359648 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7379_7382del 7379_7382delACAA r.(?) p.(Asn2460Thrfs*6) - Pathogenic
13 Unknown +/. g.32356514G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000087 rs80358978 5/1762 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7522G>A - r.(?) p.(Gly2508Ser) missense Uncertain significance​
13 Unknown +/. g.32356550C>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000057 rs80358981 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7558C>T - r.(?) p.(Arg2520*) - Pathogenic
13 Unknown +/. g.32357753T>G - Wei Xiong Wen et al. (2018) BRCA2_000151 - 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7629T>G - r.(?) p.(Tyr2543*) - -
13 Unknown +/. g.32362694G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000040 rs81002873 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.7976+1G>A - r.spl? p.? - Pathogenic
13 Unknown +/. g.32363225A>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000086 rs397507954 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.8023A>G - r.(?) p.(Ile2675Val) - Pathogenic
13 Unknown +/. g.32363403C>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000157 rs876658732 1/1726 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.8201C>T - r.(?) p.(Pro2734Leu) missense Uncertain significance​
13 Unknown +/. g.32363436_32363439del 8234_8237delTGAC Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000126 rs80359699 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.8234_8237del 8234_8237delTGAC r.(?) p.(Leu2745Glnfs*31) - Pathogenic
13 Unknown +/. g.32376739G>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000034 rs80359129 4/1762 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.32379893A>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000158 rs766308212 2/1726 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9097A>C - r.(?) p.(Thr3033Pro) missense Uncertain significance​
13 Unknown +/. g.32379893del 9097delA Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000069 rs397507419 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9097del 9097delA r.(?) p.(Thr3033Leufs*29) - Pathogenic
13 Unknown +/. g.32379893dupA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000152 rs397507419 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9097dupA - r.(?) p.(Thr3033Asnfs*11) - Pathogenic
13 Unknown +/. g.32379894_32379895insA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000012 rs80359747 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9098_9099insA - r.(?) p.(Gln3034Serfs*10) - Pathogenic
13 Unknown +/. g.32379900A>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000035 rs80359165 3/1762 VUS (variants of unknown significance) Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9104A>G - r.(?) p.(Tyr3035Cys) missense Uncertain significance​ / Likely benign
13 Unknown +/. g.32394726C>A - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000154 rs80359200 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9294C>A - r.(?) p.(Tyr3098*) - Pathogenic
13 Unknown +/. g.32394726C>G - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000153 rs80359200 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9294C>G - r.(?) p.(Tyr3098*) - Pathogenic
13 Unknown +/. g.32394762dup 9330dupT Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000155 rs1555289529 1/1726 - Nuur Athirah Binti Mohd Daud BRCA2 - NM_000059.3:c.9330dup 9330dupT r.(?) p.(Glu3111*) - Pathogenic
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