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NM_000051.4(ATM):c.3880dup (p.Ile1294fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 30, 2020
Accession:
VCV000370505.6
Variation ID:
370505
Description:
1bp duplication
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NM_000051.4(ATM):c.3880dup (p.Ile1294fs)

Allele ID
357898
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108155086-108155087 (GRCh37) GRCh37 UCSC
11: 108284359-108284360 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000051.3:c.3880dupA frameshift
LRG_135:g.66529dup
LRG_135t1:c.3880dup LRG_135p1:p.Ile1294fs
... more HGVS
Protein change
I1294fs
Other names
-
Canonical SPDI
NC_000011.10:108284359:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1057516541
ClinGen: CA16041405
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 2 criteria provided, multiple submitters, no conflicts Jul 30, 2020 RCV000410605.4
Pathogenic 1 criteria provided, single submitter Aug 11, 2017 RCV000569268.1
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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
6418 10309

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 23, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000485847.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 11, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000668150.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The c.3880dupA pathogenic mutation, located in coding exon 25 of the ATM gene, results from a duplication of A at nucleotide position 3880, causing a … (more)
Pathogenic
(Jul 30, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000937930.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Ile1294Asnfs*8) 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
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
Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. Keimling M FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011 PMID: 21778326

Text-mined citations for rs1057516541...

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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 Oct 24, 2021