ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5529A>T (p.Ala1843=) (rs372951842)

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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 RCV000575814 SCV000661185 likely benign Hereditary cancer-predisposing syndrome 2015-12-05 criteria provided, single submitter clinical testing
Color RCV000575814 SCV000688931 likely benign Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495108 SCV000578879 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; http://priors.hci.utah.edu/PRIORS/).
Integrated Genetics/Laboratory Corporation of America RCV000585944 SCV000694876 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5529A>T (p.Ala1843Ala) variant causes a synonymous change involving a non-conserved nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant to eliminate an ESE binding site, 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 3/120870(1/40290), predominantly in the East Asian cohort, 3/8650 (1/2883), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest has not, to our knowledge, been reported in affected individuals via publications/reputable databases/clinical diagnostic laboratories. Taken together, the variant of interest has been classified as a "Variant of Uncertain Significance (VUS) - Possibly Benign."
Invitae RCV000637927 SCV000759407 benign Hereditary breast and ovarian cancer syndrome 2017-11-15 criteria provided, single submitter clinical testing

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