ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5164A>T (p.Ser1722Cys) (rs80358741)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218602 SCV000275165 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000031529 SCV000146552 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Counsyl RCV000031529 SCV000785107 uncertain significance Breast-ovarian cancer, familial 2 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV000637658 SCV000759127 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-08-11 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 1722 of the BRCA2 protein (p.Ser1722Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs80358741, ExAC 0.01%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 37948). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000031529 SCV000054134 uncertain significance Breast-ovarian cancer, familial 2 2012-09-10 no assertion criteria provided clinical testing

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