ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3494A>T (p.His1165Leu)

dbSNP: rs587782201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509760 SCV000607849 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-30 criteria provided, single submitter clinical testing The p.H1165L variant (also known as c.3494A>T), located in coding exon 10 of the BRCA2 gene, results from an A to T substitution at nucleotide position 3494. The histidine at codon 1165 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. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage of 6503 at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0004% (greater than 225000 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 variant remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000509760 SCV003846647 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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