ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile)

gnomAD frequency: 0.00004  dbSNP: rs775903570
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213594 SCV000276008 benign Hereditary cancer-predisposing syndrome 2024-02-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238624 SCV000296491 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000472527 SCV000549836 likely benign Hereditary breast ovarian cancer syndrome 2024-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000478603 SCV000564771 uncertain significance not provided 2023-04-28 criteria provided, single submitter clinical testing Observed in at least one individual with early-onset breast cancer (Purnomosari et al., 2007); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 3076G>A; This variant is associated with the following publications: (PMID: 23929434, 17972177, 26295337, 28222693, 32377563, 31911673, 31131967, 29884841)
Counsyl RCV000238624 SCV000786571 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2018-05-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769689 SCV000901102 uncertain significance Breast and/or ovarian cancer 2016-12-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000213594 SCV001344268 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-11 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 950 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in an individual affected with breast cancer (PMID: 17972177). This variant has also been identified in 9/250362 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.
Molecular Endocrinology Laboratory, Christian Medical College RCV000238624 SCV002004013 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000213594 SCV003850183 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).
All of Us Research Program, National Institutes of Health RCV000238624 SCV004845072 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2023-04-27 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 950 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in an individual affected with breast cancer (PMID: 17972177). This variant has also been identified in 9/250362 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.

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