BRCA1 c.1199A>C ;(p.D400A)

Variant ID: 17-41246349-T-G

NM_007294.3(BRCA1):c.1199A>C;(p.D400A)

This variant was identified in 5 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: D400A
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer.

Endocrine Connections
Siraj, Abdul K AK; Bu, Rong R; Arshad, Maham M; Iqbal, Kaleem K; Parvathareddy, Sandeep Kumar SK; Masoodi, Tariq T; Ghazwani, Laila Omar LO; Al-Sobhi, Saif S SS; Al-Dayel, Fouad F; Al-Kuraya, Khawla S KS
Publication Date: 2020-10

Variant appearance in text: BRCA1: Asp400Ala
PubMed Link: 32992294
Variant Present in the following documents:
  • EC-20-0258.pdf
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: 1199A>C; Asp400Ala
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: D400A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.

American Journal Of Human Genetics
Weber, Frank F; Shen, Lei L; Fukino, Koichi K; Patocs, Attila A; Mutter, George L GL; Caldes, Trinidad T; Eng, Charis C
Publication Date: 2006-06

Variant appearance in text: BRCA1: D400A
PubMed Link: 16685647
Variant Present in the following documents:
  • Main text
View BVdb publication page