ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.245T>A (p.Ile82Asn) (rs1485006175)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562397 SCV000663689 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000562397 SCV000827300 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 82 of the RAD50 protein (p.Ile82Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with breast cancer (PMID: 25452441). ClinVar contains an entry for this variant (Variation ID: 480442). 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.

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