ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7602G>A (p.Ala2534=) (rs81002826)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164327 SCV000214958 likely benign Hereditary cancer-predisposing syndrome 2017-10-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000164327 SCV000911415 likely benign Hereditary cancer-predisposing syndrome 2018-03-19 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494849 SCV000579136 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;
Integrated Genetics/Laboratory Corporation of America RCV000586334 SCV000695085 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing Variant summary: The c.7602G>A (p.Ala2534=) in BRCA2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting these predictions were published at the time of evaluation. The variant is present in control population dataset of ExAC at a frequency of 8.302e-06 (1/120458 chrs tested). The observed frequency does not exceed the estimated maximal expected allele frequency of a pathogenic variant in BRCA2 gene (0.00075). The variant has not, to our knowledge, been reported in affected individuals via published reports but is cited as Likely Benign by one reputable database/clinical laboratory. Taking together, the variant was classified as VUS-Possibly Benign.
Invitae RCV000637955 SCV000759435 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-21 criteria provided, single submitter clinical testing

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