ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)

gnomAD frequency: 0.00004  dbSNP: rs80359129
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084578 SCV000073618 benign Hereditary breast ovarian cancer syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130464 SCV000185329 likely benign Hereditary cancer-predisposing syndrome 2019-02-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000590249 SCV000210479 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26757417, 23108138, 19043619, 28277317, 14973102, 18607349, 9579822, 24323938, 22486713, 18627636, 18779604, 26221963, 11251181, 28222693, 29394989, 26848529, 29681614, 24817641, 31131967, 29884841, 31825140)
Color Diagnostics, LLC DBA Color Health RCV000130464 SCV000683993 benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590249 SCV000695176 likely benign not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The c.8702G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Asp. 4/4 in-silico tools predict damaging outcome for this variant. This variant is found in 14/121646 control chromosomes from ExAC at a frequency of 0.0001151. It was predominantly reported in East Asian subpopulation with an allele frequency of 0.0016 which is about 2.15 times higher than the maximum expected allele frequency of a pathogenic variant in this gene suggesting that it is likely to be a polymorphism in East Asians. The variant has been reported in several breast and/or ovarian cancer patients/families, mainly of East Asian origin, without strong evidence for pathogenicity. In one patient with thyroid and breast cancer, a truncating mutation PTEN c. 590delA was also found, possibly suggesting for an alternative disease mechanism. In addition, it was also found in once in each of benign breast cancer patient and healthy control cohorts, possibly suggesting a benign outcome. Functional studies (HDR, cell viability and drug sensitivity assays) shows neutral outcome for this variant. Three out of five clinical labs have also classified this variant as likely benign/benign (other two as uncertain significance). Taken together, this variant has currently been classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590249 SCV001133946 benign not provided 2018-09-07 criteria provided, single submitter clinical testing
Mendelics RCV000031763 SCV001139225 benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818200 SCV002068243 likely benign not specified 2019-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532461 SCV004710855 likely benign BRCA2-related disorder 2022-01-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000031763 SCV004846059 benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-06-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031763 SCV000054371 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2010-01-22 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031763 SCV000147441 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2000-06-12 flagged submission clinical testing
Counsyl RCV000031763 SCV000487777 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2015-11-25 flagged submission clinical testing
Center for Precision Medicine, Meizhou People's Hospital RCV002250495 SCV002520845 likely benign Familial cancer of breast no assertion criteria provided literature only
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153312 SCV003843612 likely pathogenic Ovarian cancer 2022-01-01 flagged submission clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.