ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9606G>C (p.Pro3202=) (rs755890067)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495413 SCV000578903 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/).
Ambry Genetics RCV000163813 SCV000214397 likely benign Hereditary cancer-predisposing syndrome 2014-09-15 criteria provided, single submitter clinical testing
Invitae RCV000199254 SCV000253062 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
GeneDx RCV000433154 SCV000512400 likely benign not specified 2017-10-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000433154 SCV000600871 likely benign not specified 2017-05-23 criteria provided, single submitter clinical testing
Color RCV000163813 SCV000684077 benign Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000433154 SCV000918912 likely benign not specified 2017-10-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9606G>C (p.Pro3202Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 11/246166 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.000099 (11/111642). This frequency doesnot exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported in affected individuals without strong evidence for causality. UMD lists variant with co-occurrence of a pathogenic variant in BRCA1 c.4183C>T/p.Gln1395X) in one of fifteen individuals carrying this variant, supporting a non-pathogenic role of this variant. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
True Health Diagnostics RCV000163813 SCV000787961 likely benign Hereditary cancer-predisposing syndrome 2018-01-15 no assertion criteria provided clinical testing

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