ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.116A>C (p.Lys39Thr)

dbSNP: rs1555618428
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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 RCV000569770 SCV000668903 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-03 criteria provided, single submitter clinical testing The p.K39T variant (also known as c.116A>C), located in coding exon 2 of the BRIP1 gene, results from an A to C substitution at nucleotide position 116. The lysine at codon 39 is replaced by threonine, 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 175000 alleles tested) in our clinical cohort. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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