Submissions for variant NM_000051.4(ATM):c.6573-11G>A

dbSNP: rs375599653

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000479451	SCV000567694	uncertain significance	not provided	2017-03-10	criteria provided, single submitter	clinical testing	This variant is denoted ATM c.6573-11G>A or IVS45-11G>A and consists of a G>A nucleotide substitution at the -11 position of intron 45 of the ATM gene. ATM c.6573-11G>A was not observed at a significant allele frequency in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The guanine (G) nucleotide that is altered is not conserved. In silico models are inconclusive with respect to splicing, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available information, it is unclear whether ATM c.6573-11G>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color Diagnostics, LLC DBA Color Health	RCV000771923	SCV000904709	likely benign	Hereditary cancer-predisposing syndrome	2020-06-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002063710	SCV002348067	likely benign	Ataxia-telangiectasia syndrome	2024-01-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000771923	SCV002538326	uncertain significance	Hereditary cancer-predisposing syndrome	2022-02-19	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV004591419	SCV005083222	likely benign	Familial cancer of breast	2024-06-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.