ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2144A>G (p.His715Arg)

dbSNP: rs1253181575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222893 SCV001395015 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-05-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 715 of the BRIP1 protein (p.His715Arg). 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 BRIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 951059).
PreventionGenetics, part of Exact Sciences RCV004528424 SCV004111338 uncertain significance BRIP1-related disorder 2022-12-29 criteria provided, single submitter clinical testing The BRIP1 c.2144A>G variant is predicted to result in the amino acid substitution p.His715Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-59821906-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004601407 SCV005101056 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-01 criteria provided, single submitter clinical testing The p.H715R variant (also known as c.2144A>G), located in coding exon 14 of the BRIP1 gene, results from an A to G substitution at nucleotide position 2144. The histidine at codon 715 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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