ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8525G>T (p.Arg2842Leu) (rs80359105)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130831 SCV000185728 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-23 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176023 SCV000227607 uncertain significance not provided 2015-05-22 criteria provided, single submitter clinical testing
Invitae RCV000526300 SCV000635668 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 2842 of the BRCA2 protein (p.Arg2842Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs80359105, ExAC 0.001%). This variant has been reported in at least an individual affected with breast and/or ovarian cancer (PMID: 24916970). ClinVar contains an entry for this variant (Variation ID: 126181). This variant has been reported not to substantially affect BRCA2 protein function (PMID: 24323938, 23108138, 29394989, 29884841). 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113954 SCV000147392 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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