ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2793A>C (p.Gly931=) (rs786201315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565459 SCV000665018 likely benign Hereditary cancer-predisposing syndrome 2016-09-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000586053 SCV000694627 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2793A>C (p.Gly931Gly) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 120746 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."

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