BRCA2 c.7810C>A ;(p.L2604M)

Variant ID: 13-32936664-C-A

NM_000059.3(BRCA2):c.7810C>A;(p.L2604M)

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: BRCA2: L2604M
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: BRCA2: 7810C>A; Leu2604Met
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

Journal Of Translational Medicine
Jaballah-Gabteni, Amira A; Tounsi, Haifa H; Kabbage, Maria M; Hamdi, Yosr Y; Elouej, Sahar S; Ben Ayed, Ines I; Medhioub, Mouna M; Mahmoudi, Moufida M; Dallali, Hamza H; Yaiche, Hamza H; Ben Jemii, Nadia N; Maaloul, Afifa A; Mezghani, Najla N; Abdelhak, Sonia S; Hamzaoui, Lamine L; Azzouz, Mousaddak M; Boubaker, Samir S
Publication Date: 2019-06-27

Variant appearance in text: BRCA2: 7810C>A; L2604M
PubMed Link: 31248416
Variant Present in the following documents:
  • Main text
  • 12967_2019_Article_1961.pdf
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: BRCA2: L2604M
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page