Submissions for variant NM_000051.4(ATM):c.7927+13dup

dbSNP: rs587781324

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000129065	SCV000183766	likely benign	Hereditary cancer-predisposing syndrome	2012-12-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000129065	SCV000209579	benign	Hereditary cancer-predisposing syndrome	2014-10-09	criteria provided, single submitter	clinical testing	The variant is found in BR-OV-HEREDIC,HEREDICANCER panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080944	SCV000252600	benign	Ataxia-telangiectasia syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000129065	SCV000682443	likely benign	Hereditary cancer-predisposing syndrome	2016-02-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679144	SCV000805622	likely benign	not provided	2016-12-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818300	SCV002068048	likely benign	not specified	2020-04-22	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001818300	SCV004024720	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001354994	SCV001549742	uncertain significance	Familial ovarian cancer		no assertion criteria provided	clinical testing	The ATM c.7927+13dup variant was not identified in the literature nor was it identified in the LOVD 3.0 database. The variant was identified in dbSNP (ID: rs587781324) as "With other allele", ClinVar (classified as benign by Invitae and GeneDx; and as likely benign by Ambry Genetics, Color and Prevention Genetics). The variant was not identified in 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 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. 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.