ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7559G>T (p.Arg2520Leu) (rs80358982)

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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 RCV000166867 SCV000217683 likely benign Hereditary cancer-predisposing syndrome 2020-02-25 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s)
Invitae RCV000637575 SCV000759040 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-06-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 2520 of the BRCA2 protein (p.Arg2520Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals with a personal or family history of breast cancer (PMID: 25452441, 21120943). ClinVar contains an entry for this variant (Variation ID: 187168). 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.
Color Health, Inc RCV000166867 SCV000906557 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-17 criteria provided, single submitter clinical testing

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