ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3301C>T (p.His1101Tyr)

dbSNP: rs80358576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565412 SCV000668759 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-01 criteria provided, single submitter clinical testing The p.H1101Y variant (also known as c.3301C>T), located in coding exon 10 of the BRCA2 gene, results from a C to T substitution at nucleotide position 3301. The histidine at codon 1101 is replaced by tyrosine, an amino acid with similar properties. 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 RCV000565412 SCV003851840 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).
Breast Cancer Information Core (BIC) (BRCA2) RCV000113160 SCV000146210 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2003-12-23 no assertion criteria provided clinical testing

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