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BRCA2 c.3417G>A ;(p.K1139=)
Variant ID: 13-32911909-G-A
NM_000059.3(
BRCA2
):c.3417G>A;(p.K1139=)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022
Variant appearance in text: rs145625991
PubMed Link:
36561320
Variant Present in the following documents:
Table2.xlsx, sheet 3
View BVdb publication page
Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer.
Journal Of Oncology
Harpaz, Noa N; Gatt, Yair Eli YE; Granit, Roy Zvi RZ; Fruchtman, Hila H; Hubert, Ayala A; Grinshpun, Albert A
Publication Date: 2020
Variant appearance in text: BRCA2: 3417G>A
PubMed Link:
32377194
Variant Present in the following documents:
6421205.f1.xlsx, sheet 1
View BVdb publication page
Toward automation of germline variant curation in clinical cancer genetics.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09
Variant appearance in text: BRCA2: 3417G>A
PubMed Link:
30787465
Variant Present in the following documents:
NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: BRCA2: 3417G>A; Lys1139=
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page
De novo mutations in moderate or severe intellectual disability.
Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10
Variant appearance in text: BRCA2: K1139K
PubMed Link:
25356899
Variant Present in the following documents:
pgen.1004772.s004.xlsx, sheet 40
View BVdb publication page