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NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV000141344.7
Variation ID:
141344
Description:
single nucleotide variant
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NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)

Allele ID
151058
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108329027 (GRCh38) GRCh38 UCSC
11: 108199754 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.111196G>T
LRG_135t1:c.7096G>T
NG_009830.1:g.111196G>T
... more HGVS
Protein change
E2366*
Other names
-
Canonical SPDI
NC_000011.10:108329026:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA165161
dbSNP: rs587781672
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Oct 21, 2020 RCV000169152.6
Pathogenic 1 criteria provided, single submitter Jul 10, 2017 RCV000129830.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATM Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
6424 10317
C11orf65 - - - GRCh38
GRCh37
3 3892

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 05, 2014)
criteria provided, single submitter
Method: literature only
Ataxia-telangiectasia syndrome
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220379.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (2)
Pathogenic
(Jul 10, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000184646.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.E2366* <span style="font-family:arial,sans-serif; font-size:10pt">pathogenic mutation (also known as c.7096G>T) located in coding exon 48 of the ATM gene, results from a G to T … (more)
Pathogenic
(Nov 23, 2018)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918577.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: ATM c.7096G>T (p.Glu2366X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000829074.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Glu2366*) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. Hu C JAMA 2018 PMID: 29922827
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. Cybulski C Clinical genetics 2015 PMID: 25330149
Ten new ATM alterations in Polish patients with ataxia-telangiectasia. Podralska MJ Molecular genetics & genomic medicine 2014 PMID: 25614872
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. Huang Y Neuromolecular medicine 2013 PMID: 23807571
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. Du L Molecular therapy : the journal of the American Society of Gene Therapy 2013 PMID: 23774824
Rapid screen for truncating ATM mutations by PTT-ELISA. Du L Mutation research 2008 PMID: 18321536

Text-mined citations for rs587781672...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021