Submissions for variant NM_000051.4(ATM):c.7983T>C (p.Asp2661=)

gnomAD frequency: 0.00005  dbSNP: rs143972422

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163374	SCV000213914	likely benign	Hereditary cancer-predisposing syndrome	2015-01-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199625	SCV000252985	likely benign	Ataxia-telangiectasia syndrome	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000442969	SCV000517307	benign	not specified	2015-06-03	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.
Color Diagnostics, LLC DBA Color Health	RCV000163374	SCV000537478	likely benign	Hereditary cancer-predisposing syndrome	2016-02-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000442969	SCV000694366	likely benign	not specified	2019-08-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200384	SCV001371327	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ATM: BP4, BP7
Genetic Services Laboratory, University of Chicago	RCV000442969	SCV002065787	likely benign	not specified	2021-11-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163374	SCV002537789	likely benign	Hereditary cancer-predisposing syndrome	2020-07-21	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000442969	SCV004242550	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004589709	SCV005084931	benign	Familial cancer of breast	2024-06-18	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences	RCV004551394	SCV004764882	likely benign	ATM-related disorder	2019-10-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).