Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_005591.4(MRE11):c.1979C>A (p.Ser660Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
May 16, 2022
Most recent Submission:
May 16, 2022
Last evaluated:
Aug 29, 2021
Accession:
VCV001681551.1
Variation ID:
1681551
Description:
single nucleotide variant
Help

NM_005591.4(MRE11):c.1979C>A (p.Ser660Ter)

Allele ID
1673455
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q21
Genomic location
11: 94435847 (GRCh38) GRCh38 UCSC
11: 94169013 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005591.4:c.1979C>A MANE Select NP_005582.1:p.Ser660Ter nonsense
NM_001330347.2:c.1976C>A NP_001317276.1:p.Ser659Ter nonsense
NM_005590.4:c.1895C>A NP_005581.2:p.Ser632Ter nonsense
... more HGVS
Protein change
S632*, S659*, S660*
Other names
-
Canonical SPDI
NC_000011.10:94435846:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 29, 2021 RCV002239096.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MRE11 - - GRCh38
GRCh37
1697 1729

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Aug 29, 2021)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002509546.1
First in ClinVar: May 16, 2022
Last updated: May 16, 2022
Publications:
PubMed (2)
PubMed: 2308012123912341
Comment:
This sequence change creates a premature translational stop signal (p.Ser660*) in the MRE11 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms. Regal JA Human molecular genetics 2013 PMID: 23912341
Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair. Limbo O Nucleic acids research 2012 PMID: 23080121

Record last updated Oct 30, 2022