BRCA2 c.3639_3652del ;(p.V1214Lfs*14)

Variant ID: 13-32912131-AAGTGGGGTTTAGGG-A

NM_000059.3(BRCA2):c.3639_3652del;(p.V1214Lfs*14)

This variant was identified in 4 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: BRCA2: 3639_3652del; Val1214fs; rs886038091
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRCA2: 3639_3652del; Val1214fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: BRCA2: 3639_3652delAGTGGGGTTTAGGG; Val1214Leufs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Human Mutation
Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Simons, Michiel M; Eijkelenboom, Astrid A; Sie, Aisha S AS; Ouchene, Hicham H; van Asseldonk, Monique M; Gomez-Garcia, Encarna B EB; Blok, Marinus J MJ; de Hullu, Joanne A JA; Nelen, Marcel R MR; Hoischen, Alexander A; Bulten, Johan J; Tops, Bastiaan B J BB; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ
Publication Date: 2017-02

Variant appearance in text: BRCA2: 3639_3652del; Val1214fs
PubMed Link: 27767231
Variant Present in the following documents:
  • Main text
  • HUMU-38-226.pdf
View BVdb publication page