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NM_000051.4(ATM):c.3154-1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 6, 2020)
Last evaluated:
Feb 6, 2018
Accession:
VCV000556462.3
Variation ID:
556462
Description:
single nucleotide variant
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NM_000051.4(ATM):c.3154-1G>A

Allele ID
545728
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108272721 (GRCh38) GRCh38 UCSC
11: 108143448 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.54890G>A
LRG_135t1:c.3154-1G>A
NC_000011.10:g.108272721G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108272720:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555085973
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 6, 2018 RCV000672474.1
Pathogenic 1 no assertion criteria provided Sep 1, 2019 RCV001171403.1
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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
6424 10317

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Feb 06, 2018)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000797581.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Sep 01, 2019)
no assertion criteria provided
Method: research
Familial cancer of breast
Allele origin: germline
King Laboratory,University of Washington
Accession: SCV001251307.1
Submitted: (Mar 06, 2020)
Comment:
Transcript analysis by cBROCA
Evidence details
Publications
PubMed (1)

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
Characterization of splice-altering mutations in inherited predisposition to cancer. Casadei S Proceedings of the National Academy of Sciences of the United States of America 2019 PMID: 31843900
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. Hiel JA Neurology 2006 PMID: 16864838

Text-mined citations for rs1555085973...

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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