ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.517-20A>G

dbSNP: rs1555281029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582441 SCV000688919 likely benign Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000637971 SCV000759451 likely benign Hereditary breast ovarian cancer syndrome 2024-08-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000779941 SCV000916882 likely benign not specified 2017-09-18 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.517-20A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, which has been confirmed by a functional study (Thery_2011). This variant is absent in 117264 control chromosomes. Taken together, this variant is classified as Likely Benign.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000779941 SCV002761133 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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