ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4958C>T (p.Thr1653Ile)

dbSNP: rs1555284004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588110 SCV000694814 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: c.4958C>T (p.Thr1653Ile) in BRCA2 causes a missense change involving a non-conserved nucleotide with 3/5 in silico programs predicting a "benign" outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or reputable databases/clinical laboratories. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157714 SCV003852238 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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