ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7806-6del

gnomAD frequency: 0.00001  dbSNP: rs764374133
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554027 SCV000635607 likely benign Hereditary breast ovarian cancer syndrome 2023-05-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776223 SCV000911416 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001640398 SCV001855717 benign not provided 2015-07-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323477 SCV004029223 uncertain significance not specified 2023-07-06 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.7806-6delG alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 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 4e-06 in 250706 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.7806-6delG in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000239242 SCV000297451 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2010-06-08 no assertion criteria provided clinical testing

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