ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.81-17C>G (rs757442952)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195912 SCV000253521 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-09 criteria provided, single submitter clinical testing
Counsyl RCV000409501 SCV000488825 uncertain significance Breast-ovarian cancer, familial 1 2016-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000441560 SCV000512275 likely benign not specified 2017-05-26 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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000441560 SCV000591236 likely benign not specified 2017-10-25 criteria provided, single submitter clinical testing
Color RCV000583744 SCV000688671 likely benign Hereditary cancer-predisposing syndrome 2017-10-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000441560 SCV000699309 likely benign not specified 2018-08-24 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.81-17C>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0001 in 270238 control chromosomes, predominantly at a frequency of 0.00081 within the Latino subpopulation in the gnomAD database. This frequency is not significantly higher than expected for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (0.0001 vs 0.001), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.81-17C>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Five ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign (4x) and once as uncertain significance. Based on the evidence outlined above, the variant was classified as a likely benign.
PreventionGenetics,PreventionGenetics RCV000589921 SCV000806986 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing

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