ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5006-14A>C

dbSNP: rs2083314877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189958 SCV001357356 likely benign Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing
Invitae RCV002069097 SCV002389951 likely benign Ataxia-telangiectasia syndrome 2024-01-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354118 SCV001548654 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The ATM c.5006-14A>C variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Clinvitae, Cosmic, MutDB, LOVD 3.0, ATM-LOVD, GeneInsight - COGR (unavailable), the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (August 8th 2016) control databases. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) 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. This variant is classified as a variant of uncertain significance.

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