Submissions for variant NM_000051.4(ATM):c.6465G>A (p.Val2155=)

gnomAD frequency: 0.00003  dbSNP: rs140423883

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163439	SCV000213986	likely benign	Hereditary cancer-predisposing syndrome	2015-03-19	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	RCV001083758	SCV000259520	likely benign	Ataxia-telangiectasia syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000439900	SCV000512176	likely benign	not specified	2017-12-18	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	RCV000163439	SCV000682340	likely benign	Hereditary cancer-predisposing syndrome	2017-01-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000679135	SCV000702437	uncertain significance	not provided	2016-11-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679135	SCV000805601	likely benign	not provided	2017-08-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001083758	SCV001264711	uncertain significance	Ataxia-telangiectasia syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000439900	SCV002500339	likely benign	not specified	2022-03-12	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163439	SCV002537355	likely benign	Hereditary cancer-predisposing syndrome	2022-03-18	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000679135	SCV003916784	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	ATM: BP4, BP7
Myriad Genetics, Inc.	RCV004589712	SCV005085087	benign	Familial cancer of breast	2024-06-06	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.