ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.317-17T>A

dbSNP: rs1593885822
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000975297 SCV001123180 likely benign Hereditary breast ovarian cancer syndrome 2023-03-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001189537 SCV001356847 likely benign Hereditary cancer-predisposing syndrome 2019-05-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280618 SCV001467843 likely benign not specified 2020-12-18 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.317-17T>A 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 249098 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.317-17T>A in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, and to reflect the emerging consensus, the variant was classified as likely benign.
Ambry Genetics RCV001189537 SCV004915392 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-23 criteria provided, single submitter clinical testing The c.317-17T>A intronic alteration consists of a T to A substitution 17 nucleotides before coding exon 3 in the BRCA2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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