ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7596C>T (p.Pro2532=) (rs748631472)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163769 SCV000214350 likely benign Hereditary cancer-predisposing syndrome 2015-03-11 criteria provided, single submitter clinical testing
Color RCV000163769 SCV000683891 likely benign Hereditary cancer-predisposing syndrome 2017-05-04 criteria provided, single submitter clinical testing
Counsyl RCV000410990 SCV000489075 likely benign Breast-ovarian cancer, familial 2 2016-08-16 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000410990 SCV000578708 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 RCV000589370 SCV000695081 uncertain significance not provided 2016-07-25 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7596C>T (p.Pro2532Pro) variant 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 ESE site of SC35. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/120490 control chromosomes at a frequency of 0.0000166, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported nine times in UMD without co-occurrence with other deleterious variants and is classified as a VUS in the database. In literature, the variant has been reported in at least one Turkish breast/ovarian cancer patient, however co-occurrence, co-segregation, and family history data were not provided and authors consider the variant to be a polymorphism. One clinical lab has classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000458573 SCV000560418 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589370 SCV000805766 likely benign not provided 2017-06-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506363 SCV000600758 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589370 SCV000889134 likely benign not provided 2017-02-09 criteria provided, single submitter clinical testing

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