ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7683G>A (p.Gln2561=) (rs786201304)

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Total submissions: 3
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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) RCV000495415 SCV000578857 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 RCV000163327 SCV000213860 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 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 RCV000587192 SCV000695094 likely benign not provided 2016-08-08 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7683G>A (p.Gln2561Gln) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. ESE finder predicts that this variant may affect ESE site of SC35. However, 4/5 splice prediction tools predict no significant impact on normal splicing, which has been confirmed by two studies (Houdayer_2012, Thery_2011). This variant is absent in 121276 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likley benign.

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