ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1660T>G (p.Cys554Gly)

dbSNP: rs786202149
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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 RCV000164818 SCV000215501 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-23 criteria provided, single submitter clinical testing The p.C554G variant (also known as c.1660T>G), located in coding exon 9 of the BRCA2 gene, results from a T to G substitution at nucleotide position 1660. The cysteine at codon 554 is replaced by glycine, an amino acid with highly dissimilar 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759581 SCV000888989 uncertain significance not provided 2019-01-16 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000164818 SCV003851554 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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