ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)

gnomAD frequency: 0.00004  dbSNP: rs80356899
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129517 SCV000184292 likely benign Hereditary cancer-predisposing syndrome 2021-03-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000588811 SCV000321427 uncertain significance not provided 2023-07-06 criteria provided, single submitter clinical testing Observed individuals undergoing clinical testing for hereditary breast and ovarian cancer (Judkins et al., 2005; Anczukow et al., 2008); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 3262G>A; This variant is associated with the following publications: (PMID: 26306726, 25011685, 15385441, 18273839, 9354803, 23893897, 9150149, 33087888, 30287823, 16267036, 31131967, 15343273, 35264596, 32980694)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588811 SCV000600318 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588811 SCV000699005 uncertain significance not provided 2016-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000112008 SCV000785538 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2017-09-06 criteria provided, single submitter clinical testing
Mendelics RCV000709476 SCV000839258 uncertain significance Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000112008 SCV001140557 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000709476 SCV001568312 likely benign Hereditary breast ovarian cancer syndrome 2024-01-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000129517 SCV002538187 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-06 criteria provided, single submitter curation
University of Washington Department of Laboratory Medicine, University of Washington RCV000129517 SCV003847399 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Color Diagnostics, LLC DBA Color Health RCV000129517 SCV004360244 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-18 criteria provided, single submitter clinical testing This missense variant replaces glycine with aspartic acid at codon 1048 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in breast, pancreatic and prostate cancer case-control studies in 1 unaffected individual per study and absent in cancer cases (PMID: 30287823, 31214711, 32980694) and in a multifactorial analysis with co-occurrence and family history likelihood ratios for pathogenicity of 1.1391 and 0.4042, respectively (PMID: 31131967). This variant has been identified in 9/282390 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112008 SCV000144648 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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