ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2340A>G (p.Ile780Met)

dbSNP: rs1603303793
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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 RCV001015235 SCV001176050 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-14 criteria provided, single submitter clinical testing The p.I780M variant (also known as c.2340A>G), located in coding exon 15 of the BRIP1 gene, results from an A to G substitution at nucleotide position 2340. The isoleucine at codon 780 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well 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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