ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)

gnomAD frequency: 0.00001  dbSNP: rs2061326120
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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 RCV001461041 SCV001664925 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439094 SCV002752434 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-19 criteria provided, single submitter clinical testing The p.K979R variant (also known as c.2936A>G), located in coding exon 19 of the BRIP1 gene, results from an A to G substitution at nucleotide position 2936. The lysine at codon 979 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.
Baylor Genetics RCV003463043 SCV004217096 uncertain significance Familial cancer of breast 2023-06-02 criteria provided, single submitter clinical testing

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