ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1866G>A (p.Ala622=) (rs1800064)

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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) RCV000495392 SCV000578333 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;
GeneDx RCV000159873 SCV000209933 benign not specified 2014-09-15 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.
Ambry Genetics RCV000167406 SCV000218261 likely benign Hereditary cancer-predisposing syndrome 2014-12-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724275 SCV000224995 uncertain significance not provided 2014-09-09 criteria provided, single submitter clinical testing
Invitae RCV000196820 SCV000253496 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-26 criteria provided, single submitter clinical testing
Color RCV000167406 SCV000682992 likely benign Hereditary cancer-predisposing syndrome 2016-08-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724275 SCV000888854 likely benign not provided 2018-03-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000159873 SCV000916762 likely benign not specified 2018-06-18 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.1866G>A alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. A functional study, Anczukow_2008, supports these predictions. The variant allele was found at a frequency of 1.6e-05 in 246026 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.1866G>A, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Caux-Moncoutier_2011, de Juan Jimenez_2012, Judkins_2005, Shattuck-Eidens_1997). Three ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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