ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3409T>C (p.Leu1137=)

dbSNP: rs1054724641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582889 SCV000688802 likely benign Hereditary cancer-predisposing syndrome 2016-11-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355521 SCV001550433 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The BRCA2 p.Leu1137= variant was not identified in the literature nor was it identified in the dbSNP or LOVD 3.0 databases. The variant was identified in ClinVar (classified as likely benign by Color), and UMD-LSDB (1 entry).The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Leu1137= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. The nucleotide is not highly conserved and a T>C substitution is observed in several mammalian species. In addition, the variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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