Submissions for variant NM_000051.4(ATM):c.5178-11G>A

dbSNP: rs200876654

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000428412	SCV000516865	likely benign	not specified	2017-06-07	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.
Counsyl	RCV000672242	SCV000797332	likely benign	Ataxia-telangiectasia syndrome	2018-01-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001179338	SCV001343981	likely benign	Hereditary cancer-predisposing syndrome	2017-03-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000672242	SCV002357440	likely benign	Ataxia-telangiectasia syndrome	2023-11-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001179338	SCV002527889	uncertain significance	Hereditary cancer-predisposing syndrome	2021-10-08	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV004591170	SCV005085703	likely benign	Familial cancer of breast	2024-05-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001357439	SCV001552913	likely benign	not provided		no assertion criteria provided	clinical testing	The ATM c.5178-11G>A variant was not identified in the literature nor was it identified in the Cosmic, MutDB, ATM-LOVD, LOVD 3.0 databases, and GeneInsight – COGR (unavailable). The variant was identified in dbSNP (ID: rs200876654) “With Likely benign allele”, ClinVar (classified as likely benign by GeneDx), Clinvitae (1x), and in control databases in 1 of 245882 chromosomes at a frequency of 0.000004 increasing the likelihood that this may be a low frequency benign variant in certain populations of origin (Genome Aggregation Consortium Feb 27, 2017), being identified in the following population: Other in 1 of 5472 chromosomes (frequency: 0.0002). 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.