BRCA1 c.3981G>T ;(p.Q1327H)

Variant ID: 17-41243567-C-A

NM_007294.3(BRCA1):c.3981G>T;(p.Q1327H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA1: Q1327H
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 3981G>T; Gln1327His
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA1: Q1327H
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.

Cold Spring Harbor Molecular Case Studies
Thibodeau, My Linh ML; Reisle, Caralyn C; Zhao, Eric E; Martin, Lee Ann LA; Alwelaie, Yazeed Y; Mungall, Karen L KL; Ch'ng, Carolyn C; Thomas, Ruth R; Ng, Tony T; Yip, Stephen S; J Lim, Howard H; Sun, Sophie S; Young, Sean S SS; Karsan, Aly A; Zhao, Yongjun Y; Mungall, Andrew J AJ; Moore, Richard A RA; J Renouf, Daniel D; Gelmon, Karen K; Ma, Yussanne P YP; Hayes, Malcolm M; Laskin, Janessa J; Marra, Marco A MA; Schrader, Kasmintan A KA; Jones, Steven J M SJM
Publication Date: 2017-09

Variant appearance in text: BRCA1: Gln1327His
PubMed Link: 28514723
Variant Present in the following documents:
  • Main text
  • supp_mcs.a001628_Supplemental_Table_S1.xlsx, sheet 4
  • ThibodeauMCS001628.pdf
View BVdb publication page