BRCA1 c.5080G>A ;(p.E1694K)

Variant ID: 17-41215963-C-T

NM_007294.3(BRCA1):c.5080G>A;(p.E1694K)

This variant was identified in 13 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: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA1: 5080G>A
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.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: E1694K
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: BRCA1: 5080G>A; E1694K
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
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: 5080G>A; Glu1694Lys
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



CAMK2N1/RUNX3 methylation is an independent prognostic biomarker for progression-free and overall survival of platinum-sensitive epithelial ovarian cancer patients.

Clinical Epigenetics
Heinze, Karolin K; Rengsberger, Matthias M; Gajda, Mieczyslaw M; Jansen, Lars L; Osmers, Linea L; Oliveira-Ferrer, Leticia L; Schmalfeldt, Barbara B; Dürst, Matthias M; Häfner, Norman N; Runnebaum, Ingo B IB
Publication Date: 2021-01-22

Variant appearance in text: BRCA1: 5080G>A
PubMed Link: 33482905
Variant Present in the following documents:
  • 13148_2021_1006_MOESM1_ESM.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: 5080G>A; Glu1694Lys
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: 5080G>A; E1694K
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



Accurate classification of BRCA1 variants with saturation genome editing.

Nature
Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5080G>A; E1694K
PubMed Link: 30209399
Variant Present in the following documents:
  • NIHMS1501643-supplement-2.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: E1694K
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Multi-omics profiling of younger Asian breast cancers reveals distinctive molecular signatures.

Nature Communications
Kan, Zhengyan Z; Ding, Ying Y; Kim, Jinho J; Jung, Hae Hyun HH; Chung, Woosung W; Lal, Samir S; Cho, Soonweng S; Fernandez-Banet, Julio J; Lee, Se Kyung SK; Kim, Seok Won SW; Lee, Jeong Eon JE; Choi, Yoon-La YL; Deng, Shibing S; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Sha, Ying Y; Mu, Xinmeng Jasmine XJ; Nam, Jae-Yong JY; Im, Young-Hyuck YH; Lee, Soohyeon S; Park, Woong-Yang WY; Nam, Seok Jin SJ; Park, Yeon Hee YH
Publication Date: 2018-04-30

Variant appearance in text: rs80356896
PubMed Link: 29713003
Variant Present in the following documents:
  • 41467_2018_4129_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



ARID1B alterations identify aggressive tumors in neuroblastoma.

Oncotarget
Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW
Publication Date: 2017-07-11

Variant appearance in text: rs80356896
PubMed Link: 28521285
Variant Present in the following documents:
  • oncotarget-08-45943-s002.xlsx, sheet 2
View BVdb publication page



"Similarity trap" in protein-protein interactions could be carcinogenic: simulations of p53 core domain complexed with 53BP1 and BRCA1 BRCT domains.

Structure (London, England : 1993)
Liu, Jin J; Pan, Yongping Y; Ma, Buyong B; Nussinov, Ruth R
Publication Date: 2006-12

Variant appearance in text: BRCA1: E1694K
PubMed Link: 17161371
Variant Present in the following documents:
  • Main text
View BVdb publication page