ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9738C>A (p.Ala3246=) (rs80359811)

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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 RCV000163409 SCV000213952 likely benign Hereditary cancer-predisposing syndrome 2017-11-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000163409 SCV000689225 likely benign Hereditary cancer-predisposing syndrome 2017-08-23 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495521 SCV000578900 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 RCV000586245 SCV000695268 uncertain significance not provided 2016-06-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9738C>A (p.Ala3246Ala) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing, while ESE finder predictions alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/121373, which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333 (0.0007503). The variant of interest has been reported in affected individuals via publications, although with limited information (ie, lack of co-occurrence and cosegregation data). Multiple reputable databases/clinical laboratories have cited the variant with conflicting classifications, "uncertain" or "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as a "VUS-possibly benign," until additional information becomes available.
Invitae RCV000556113 SCV000635758 benign Hereditary breast and ovarian cancer syndrome 2017-03-06 criteria provided, single submitter clinical testing

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