ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.122A>G (p.His41Arg)

gnomAD frequency: 0.00001  dbSNP: rs1253714284
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010446 SCV001170646 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-11 criteria provided, single submitter clinical testing The p.H41R variant (also known as c.122A>G), located in coding exon 2 of the BRIP1 gene, results from an A to G substitution at nucleotide position 122. The histidine at codon 41 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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