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NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 14, 2017)
Last evaluated:
Sep 16, 2016
Accession:
VCV000371070.1
Variation ID:
371070
Description:
2bp duplication
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NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)

Allele ID
357885
Variant type
Duplication
Variant length
2 bp
Cytogenetic location
11q22.3
Genomic location
11: 108129712-108129713 (GRCh37) GRCh37 UCSC
11: 108258985-108258986 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000051.3:c.2377_2378dupAA frameshift
LRG_135:g.41155_41156dup
NC_000011.10:g.108258986_108258987dup
... more HGVS
Protein change
S794fs
Other names
-
Canonical SPDI
NC_000011.10:108258985:AA:AAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041392
dbSNP: rs1057516980
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 Sep 16, 2016 RCV000410884.1
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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
(Sep 16, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000486540.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Mar 31, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000547053.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change inserts 2 nucleotides in exon 16 of the ATM mRNA (c.2377_2378dupAA), causing a frameshift at codon 794. This creates a premature translational … (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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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 rs1057516980...

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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