ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7609C>T (p.His2537Tyr)

dbSNP: rs1555286310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556744 SCV000635593 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-01 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: 462450). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 2537 of the BRCA2 protein (p.His2537Tyr).
Baylor Genetics RCV003459223 SCV004216133 uncertain significance Familial cancer of breast 2023-05-18 criteria provided, single submitter clinical testing

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