ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.543A>G (p.Glu181=) (rs397507250)

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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 RCV000164054 SCV000214661 likely benign Hereditary cancer-predisposing syndrome 2015-09-06 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031252 SCV000578189 likely benign Breast-ovarian cancer, familial 1 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 RCV000586909 SCV000699253 uncertain significance not provided 2017-05-30 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.543A>G (p.Glu181Glu) 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. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121402 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign without evidence for independent evaluation. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000205479 SCV000260835 likely benign Hereditary breast and ovarian cancer syndrome 2017-05-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031252 SCV000053856 likely benign Breast-ovarian cancer, familial 1 2006-06-27 no assertion criteria provided clinical testing

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