ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7183C>T (p.His2395Tyr)

dbSNP: rs1593917974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026126 SCV001188447 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-15 criteria provided, single submitter clinical testing The p.H2395Y variant (also known as c.7183C>T), located in coding exon 13 of the BRCA2 gene, results from a C to T substitution at nucleotide position 7183. The histidine at codon 2395 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862355 SCV002307727 uncertain significance Hereditary breast ovarian cancer syndrome 2021-09-15 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: 826891). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 2395 of the BRCA2 protein (p.His2395Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine.

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