ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2534T>C (p.Val845Ala)

dbSNP: rs1555574775
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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 RCV000571541 SCV000668869 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-13 criteria provided, single submitter clinical testing The p.V845A variant (also known as c.2534T>C), located in coding exon 17 of the BRIP1 gene, results from a T to C substitution at nucleotide position 2534. The valine at codon 845 is replaced by alanine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 175000 alleles tested) in our clinical cohort. 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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