ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5795A>G (p.His1932Arg)

dbSNP: rs1566233236
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001801049 SCV002046450 uncertain significance not provided 2020-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074149 SCV002484493 likely benign Hereditary breast ovarian cancer syndrome 2024-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359260 SCV002647298 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-08 criteria provided, single submitter clinical testing The p.H1932R variant (also known as c.5795A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 5795. The histidine at codon 1932 is replaced by arginine, an amino acid with highly 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV002359260 SCV003849114 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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