ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6987G>A (p.Pro2329=) (rs756619373)

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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 RCV000163060 SCV000213554 likely benign Hereditary cancer-predisposing syndrome 2014-09-18 criteria provided, single submitter clinical testing
Color RCV000163060 SCV000683834 likely benign Hereditary cancer-predisposing syndrome 2017-06-07 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495758 SCV000579104 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 RCV000589218 SCV000695018 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6987G>A (p.Pro2329Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging 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 site of SF2/ASF. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/118176 control chromosomes at a frequency of 0.0000085, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been found in one HBOC patient without additional evidence supporting pathogenicity (Schenkel_2016). In addition, one clinical diagnostic laboratory classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000469679 SCV000560451 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-11 criteria provided, single submitter clinical testing

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