ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.956A>G (p.Asn319Ser)

dbSNP: rs397507258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019486 SCV001180850 likely benign Hereditary cancer-predisposing syndrome 2019-03-20 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.
Invitae RCV001314773 SCV001505320 uncertain significance Hereditary breast ovarian cancer syndrome 2021-09-03 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 37711). This missense change has been observed in individual(s) with breast cancer (PMID: 28439188). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 319 of the BRCA1 protein (p.Asn319Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine.
University of Washington Department of Laboratory Medicine, University of Washington RCV001019486 SCV003846266 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).
Sharing Clinical Reports Project (SCRP) RCV000031292 SCV000053897 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2011-05-06 no assertion criteria provided clinical testing

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