ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7493A>C (p.Lys2498Thr) (rs587776469)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476388 SCV000549740 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 2498 of the BRCA2 protein (p.Lys2498Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with a family history of breast cancer (Invitae). However, in that individual a pathogenic allele was also identified in BRCA1, which suggests that this c.7493A>C variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 156173). 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 disruptive, 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.
Counsyl RCV000144190 SCV000785267 uncertain significance Breast-ovarian cancer, familial 2 2017-06-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000144190 SCV000189263 uncertain significance Breast-ovarian cancer, familial 2 2011-05-13 no assertion criteria provided clinical testing

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