BRCA1 c.2301C>A ;(p.S767R)

Variant ID: 17-41245247-G-T

NM_007294.3(BRCA1):c.2301C>A;(p.S767R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 2301C>A; Ser767Arg
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: S767R
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Novel germline PALB2 truncating mutations in African American breast cancer patients.

Cancer
Zheng, Yonglan Y; Zhang, Jing J; Niu, Qun Q; Huo, Dezheng D; Olopade, Olufunmilayo I OI
Publication Date: 2012-03-01

Variant appearance in text: BRCA1: 2301C>A
PubMed Link: 21932393
Variant Present in the following documents:
  • Main text
View BVdb publication page