BRCA1 c.3998T>C ;(p.V1333A)

Variant ID: 17-41243550-A-G

NM_007294.3(BRCA1):c.3998T>C;(p.V1333A)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BRCA1: 3998T>C; V1333A; rs1135401872
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: rs1135401872
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 2
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: BRCA1: V1333A; rs1135401872
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: V1333A
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA1: 3998T>C; Val1333Ala
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: 3998T>C; Val1333Ala
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: BRCA1: 3998T>C; Val1333Ala; rs1135401872
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
  • 41436_2019_740_MOESM2_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: V1333A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.

Bmc Cancer
Dodova, Rumyana Ivanova RI; Mitkova, Atanaska Velichkova AV; Dacheva, Daniela Rosenova DR; Hadjo, Lina Basam LB; Vlahova, Alexandrina Ivanova AI; -Hadjieva, Margarita Stoyanova Taushanova MST; Valev, Spartak Stoyanov SS; Caulevska, Marija Mitko MM; Popova, Stanislava Dimitrova SD; Popov, Ivan Emilov IE; Dikov, Tihomir Iliichev TI; Sedloev, Theophil Angelov TA; Ionkov, Atanas Stefanov AS; Timcheva, Konstanta Velinova KV; Christova, Svetlana Liubomirova SL; Kremensky, Ivo Marinov IM; Mitev, Vanio Ivanov VI; Kaneva, Radka Petrova RP
Publication Date: 2015-07-17

Variant appearance in text: BRCA1: Val1333Ala
PubMed Link: 26183948
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1516.pdf
View BVdb publication page