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 product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. For these reasons, this variant has been classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
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- 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
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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
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_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 NC_000011.10:g.94435847G>T NC_000011.9:g.94169013G>T NG_007261.1:g.63028C>A LRG_85:g.63028C>A - 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
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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 |
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 |
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)
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 product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. For these reasons, this variant has been classified as Pathogenic. (less)
|
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