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NM_000051.4(ATM):c.7998dup (p.Met2667fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Nov 30, 2020)
Last evaluated:
May 14, 2020
Accession:
VCV000127453.6
Variation ID:
127453
Description:
1bp duplication
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NM_000051.4(ATM):c.7998dup (p.Met2667fs)

Allele ID
132910
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108333955-108333956 (GRCh38) GRCh38 UCSC
11: 108204682-108204683 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000051.3:c.7998dup NP_000042.3:p.Met2667fs frameshift
NC_000011.10:g.108333956dup
NC_000011.9:g.108204683dup
... more HGVS
Protein change
M2667fs
Other names
-
Canonical SPDI
NC_000011.10:108333955:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA287005
dbSNP: rs587779869
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts May 14, 2020 RCV000115259.7
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 30, 2018 RCV000409494.2
Pathogenic 1 criteria provided, single submitter Oct 8, 2013 RCV000766525.1
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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
C11orf65 - - - GRCh38
GRCh37
3 3890

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 08, 2013)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000149168.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted c.7998_7999insT (aka c.7998dupT) at the cDNA level and p.Met2667TyrfsX4 (M2667YfsX4) at the protein level. The surrounding sequence is TACT{insT}ATGG. The insertion … (more)
Pathogenic
(Nov 26, 2013)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000185259.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
​The c.7998dupT pathogenic mutation, located in coding exon 53 of the ATM gene, results from a duplication of T at position 7998, causing a translational … (more)
Likely pathogenic
(Dec 28, 2015)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: unknown
Counsyl
Accession: SCV000485517.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Oct 30, 2018)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia syndrome
Allele origin: germline
Invitae
Accession: SCV000945368.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Met2667Tyrfs*4) in the ATM gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(May 14, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000682448.2
Submitted: (May 19, 2020)
Comment:
This variant inserts 1 nucleotide in exon 54 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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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 rs587779869...

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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 20, 2021