ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2085G>T (p.Leu695Phe)

dbSNP: rs1555601008
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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 RCV001065843 SCV001230829 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-06-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 695 of the BRIP1 protein (p.Leu695Phe). 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 BRIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 859678). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions.
Sema4, Sema4 RCV002258122 SCV002531390 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-11 criteria provided, single submitter curation
Ambry Genetics RCV002258122 SCV002726549 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-27 criteria provided, single submitter clinical testing The p.L695F variant (also known as c.2085G>T), located in coding exon 13 of the BRIP1 gene, results from a G to T substitution at nucleotide position 2085. The leucine at codon 695 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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