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NM_000051.4(ATM):c.1655del (p.Pro552fs)

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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:
Mar 6, 2020
Accession:
VCV000370931.5
Variation ID:
370931
Description:
1bp deletion
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NM_000051.4(ATM):c.1655del (p.Pro552fs)

Allele ID
357877
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108251883 (GRCh38) GRCh38 UCSC
11: 108122610 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000051.3:c.1655delC frameshift
LRG_135:g.34053del
LRG_135t1:c.1655del LRG_135p1:p.Pro552fs
... more HGVS
Protein change
P552fs
Other names
-
Canonical SPDI
NC_000011.10:108251882:CC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041384
dbSNP: rs1057516876
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 Mar 6, 2020 RCV000411653.4
Pathogenic 1 criteria provided, single submitter Jan 15, 2020 RCV001176294.1
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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
(May 18, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000486366.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Mar 06, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000946798.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Pro552Glnfs*4) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jan 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001340196.1
Submitted: (May 19, 2020)
Comment:
This variant deletes 1 nucleotide in exon 11 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
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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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

Text-mined citations for rs1057516876...

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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