ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4097-11T>G (rs80358072)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000925977 SCV001071532 likely benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193195 SCV001361891 uncertain significance not specified 2019-10-07 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.4097-11T>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. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 241972 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4097-11T>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. A different nucleotide change at the same location (BRCA1:c.4097-11T>C, ClinVar ID 125673) has been reviewed as benign by an expert panel (ENIGMA) with multiple clinical lab submitters reporting a likely benign classification. Based on the evidence outlined above, the c.4097-11T>G variant in BRCA1 was classified as uncertain significance.
Invitae RCV001482383 SCV001686750 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-19 criteria provided, single submitter clinical testing

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