ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8631G>A (p.Leu2877=)

dbSNP: rs1064794840
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478997 SCV000570058 uncertain significance not provided 2016-04-20 criteria provided, single submitter clinical testing This variant is denoted ATM c.8631G>A at the DNA level. This variant is silent at the coding level, preserving a Leucine at codon 2877. It is not predicted to affect splicing. ATM c.8631G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The nucleotide which is altered is conserved in mammals. Based on currently available information, it is unclear whether ATM c.8631G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV002446930 SCV002682478 likely benign Hereditary cancer-predisposing syndrome 2020-10-03 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.
CeGaT Center for Human Genetics Tuebingen RCV000478997 SCV004133278 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing ATM: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003605625 SCV004509418 likely benign Ataxia-telangiectasia syndrome 2023-03-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004591425 SCV005083164 benign Familial cancer of breast 2024-06-20 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.

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