ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1783C>A (p.His595Asn)

gnomAD frequency: 0.00001  dbSNP: rs587781906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013139 SCV001173683 likely benign Hereditary cancer-predisposing syndrome 2018-08-13 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 RCV001873242 SCV002121482 uncertain significance Hereditary breast ovarian cancer syndrome 2021-06-17 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. This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 820068). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with asparagine at codon 595 of the BRCA2 protein (p.His595Asn). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and asparagine.
University of Washington Department of Laboratory Medicine, University of Washington RCV001013139 SCV003851640 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).

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