ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216953 SCV000273799 likely benign Hereditary cancer-predisposing syndrome 2015-02-05 criteria provided, single submitter clinical testing
Color RCV000216953 SCV000683708 benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495377 SCV000578024 benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0031 (South Asian), derived from ExAC (2014-12-17).
GeneDx RCV000426692 SCV000512368 benign not specified 2015-04-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000589188 SCV000694875 likely benign not provided 2017-08-04 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5529A>C (p.Ala1843Ala) variant (alternatively also known as 5757A>C) involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect an ESE site at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in 53/120910 control chromosomes from ExAC, predominantly observed in the South Asian subpopulation at a frequency of 0.003045 (50/16420). This frequency is about 4 times the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. The variant was identified in multiple individuals with breast and ovarian cancer in the published literature without strong evidence for causality. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as benign. Taken together, this variant is classified as likely benign.
Invitae RCV000537015 SCV000635455 benign Hereditary breast and ovarian cancer syndrome 2017-11-30 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589188 SCV000805725 likely benign not provided 2017-01-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589188 SCV000889071 benign not provided 2017-11-15 criteria provided, single submitter clinical testing

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