ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2342C>T (p.Thr781Ile)

dbSNP: rs1555590382
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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 RCV000565998 SCV000661521 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-15 criteria provided, single submitter clinical testing The p.T781I variant (also known as c.2342C>T), located in coding exon 15 of the BRIP1 gene, results from a C to T substitution at nucleotide position 2342. The threonine at codon 781 is replaced by isoleucine, 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 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 120000 alleles tested) in our clinical cohort. 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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