ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7242A>T (p.Ser2414=) (rs1799955)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495602 SCV000579204 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02;
Invitae RCV000755859 SCV000635564 likely benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572291 SCV000665975 likely benign Hereditary cancer-predisposing syndrome 2015-10-27 criteria provided, single submitter clinical testing
Color RCV000572291 SCV000689041 likely benign Hereditary cancer-predisposing syndrome 2017-09-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755859 SCV000883479 likely benign not provided 2017-05-05 criteria provided, single submitter clinical testing The BRCA2 c.7242A>T; p.Ser2414Ser variant has not been reported in the literature or gene-specific variant databases. It is observed in the general population databases (rs1799955) at a frequency of 0.001 percent (3/276966 alleles; Genome Aggregation Database). This is a synonymous change, the nucleotide is not well conserved, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, HumanSplicingFinder) do not predict this variant to significantly impact splicing. Taken together, this variant is considered likely benign.

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