ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4050T>A (p.His1350Gln)

dbSNP: rs1359369718
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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 RCV000576084 SCV000666073 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing The p.H1350Q variant (also known as c.4050T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 4050. The histidine at codon 1350 is replaced by glutamine, an amino acid with highly 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 6500 samples (13000 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 300000 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000576084 SCV003848642 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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