ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)

dbSNP: rs398122544
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Michigan Medical Genetics Laboratories, University of Michigan RCV000076950 SCV000267723 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574036 SCV000666001 likely benign Hereditary cancer-predisposing syndrome 2019-03-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000690786 SCV000818512 uncertain significance Hereditary breast ovarian cancer syndrome 2023-03-26 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 91433). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is present in population databases (rs398122544, gnomAD 0.003%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 20 of the BRCA2 protein (p.Asn20Ser).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758917 SCV000887863 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000574036 SCV000905890 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV003460721 SCV004216164 uncertain significance Familial cancer of breast 2023-05-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000076950 SCV000108747 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2012-12-03 no assertion criteria provided clinical testing

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