ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.793A>T (p.Arg265Trp)

dbSNP: rs876659650
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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 RCV000223409 SCV000276340 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-10 criteria provided, single submitter clinical testing The p.R265W variant (also known as c.793A>T), located in coding exon 6 of the BRIP1 gene, results from an A to T substitution at nucleotide position 793. The arginine at codon 265 is replaced by tryptophan, an amino acid with dissimilar 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 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 65000 alleles tested) in our clinical cohort. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.R265W remains unclear.

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