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NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)

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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:
Sep 11, 2019
Accession:
VCV000141373.5
Variation ID:
141373
Description:
single nucleotide variant
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NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)

Allele ID
151087
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108365335 (GRCh38) GRCh38 UCSC
11: 108236062 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.147504C>T
NC_000011.9:g.108236062C>T
NC_000011.10:g.108365335C>T
... more HGVS
Protein change
Q3000*
Other names
-
Canonical SPDI
NC_000011.10:108365334:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA165254
dbSNP: rs587781698
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 8, 2017 RCV000129865.4
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 11, 2019 RCV000576680.3
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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
Pathogenic
(Jun 08, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000184682.7
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.Q3000* pathogenic mutation (also known as c.8998C>T), located in coding exon 62 of the ATM gene, results from a C to T substitution at … (more)
Likely pathogenic
(Feb 09, 2017)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000678101.1
Submitted: (Jun 22, 2017)
Evidence details
Pathogenic
(Jun 08, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000687868.1
Submitted: (Dec 21, 2017)
Evidence details
Pathogenic
(Sep 11, 2019)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV001408167.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change results in a premature translational stop signal in the ATM gene (p.Gln3000*). While this is not anticipated to result in nonsense mediated … (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
Novel ATM mutations with ataxia-telangiectasia. Liu XL Neuroscience letters 2016 PMID: 26628246
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. Chessa L Annals of human genetics 2009 PMID: 19691550
Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. Perfettini JL PloS one 2008 PMID: 18560558
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. Laake K Human mutation 2000 PMID: 10980530
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. Broeks A Human mutation 1998 PMID: 9792409
Mutations associated with variant phenotypes in ataxia-telangiectasia. McConville CM American journal of human genetics 1996 PMID: 8755918

Text-mined citations for rs587781698...

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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