ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7643A>T (p.His2548Leu)

dbSNP: rs80358992
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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 RCV000132195 SCV000187275 uncertain significance Hereditary cancer-predisposing syndrome 2014-03-14 criteria provided, single submitter clinical testing The p.H2548L variant (also known as c.7643A>T or7871A>T), located in coding exon 15 of the BRCA2 gene, results from an A to T substitution at nucleotide position 7643. The histidine at codon 2548 is replaced by leucine, 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.To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 42,000 alleles tested) in our clinical cohort (includes this individual).This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively.Since supporting evidence is limited at this time, the clinical significance of p.H2548L remains unclear.

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