ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9649-5A>G

dbSNP: rs1057522325
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426647 SCV000527155 likely benign not specified 2016-04-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001492370 SCV001696980 likely benign Hereditary breast ovarian cancer syndrome 2019-11-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800670 SCV002046341 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022399 SCV005031648 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-27 criteria provided, single submitter clinical testing The c.9649-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 26 in the BRCA2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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