Submissions for variant NM_000051.4(ATM):c.3077+15T>C

dbSNP: rs1555085277

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000583575	SCV000687443	likely benign	Hereditary cancer-predisposing syndrome	2017-09-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000616028	SCV000719371	likely benign	not specified	2017-05-11	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	RCV002060591	SCV002359140	likely benign	Ataxia-telangiectasia syndrome	2024-01-13	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001357151	SCV001552520	likely benign	Malignant tumor of breast		no assertion criteria provided	clinical testing	The ATM c.3077+15T>C 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 GeneDx). 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 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.