ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1221G>T (p.Gln407His)

dbSNP: rs1555281779
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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 RCV000569194 SCV000661390 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-16 criteria provided, single submitter clinical testing The p.Q407H variant (also known as c.1221G>T), located in coding exon 9 of the BRCA2 gene, results from a G to T substitution at nucleotide position 1221. The glutamine at codon 407 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is 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 RCV000569194 SCV003849916 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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