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NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Apr 13, 2016
Accession:
VCV000370787.1
Variation ID:
370787
Description:
single nucleotide variant
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NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)

Allele ID
357886
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108137973 (GRCh37) GRCh37 UCSC
11: 108267246 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_135:g.49415G>T
LRG_135t1:c.2542G>T LRG_135p1:p.Glu848Ter
NC_000011.10:g.108267246G>T
... more HGVS
Protein change
E848*
Other names
-
Canonical SPDI
NC_000011.10:108267245:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041393
dbSNP: rs879254046
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 Apr 13, 2016 RCV000409865.1
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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 10318

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 13, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000486193.1
Submitted: (Nov 23, 2016)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs879254046...

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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 Dec 04, 2021