ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8527A>C (p.Asn2843His)

dbSNP: rs876660403
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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 RCV000573644 SCV000666004 benign Hereditary cancer-predisposing syndrome 2023-12-12 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.
Color Diagnostics, LLC DBA Color Health RCV000573644 SCV000913119 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003530073 SCV004344258 uncertain significance Hereditary breast ovarian cancer syndrome 2023-06-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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: 481518). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 2843 of the BRCA2 protein (p.Asn2843His).
Baylor Genetics RCV004569148 SCV005059197 uncertain significance Familial cancer of breast 2023-11-08 criteria provided, single submitter clinical testing

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