ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7832A>G (p.Asp2611Gly) (rs80359010)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045327 SCV000073340 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 2611 of the BRCA2 protein (p.Asp2611Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with a personal or family history of breast cancer (PMID: 16030099). ClinVar contains an entry for this variant (Variation ID: 52424). Experimental studies have shown that this missense change has reduced homology-directed repair (HDR) activity in vitro as compared to the wild-type BRCA2 protein (PMID: 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.
Ambry Genetics RCV000165314 SCV000216036 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000113832 SCV000489709 uncertain significance Breast-ovarian cancer, familial 2 2016-11-14 criteria provided, single submitter clinical testing
Color RCV000165314 SCV000683912 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113832 SCV000147201 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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