This sequence change creates a premature translational stop signal (p.Pro185Glnfs*14) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MRE11-related conditions. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). For these reasons, this variant has been classified as Pathogenic.
ClinVar Genomic variation as it relates to human health
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:
- Oct 12, 2019
- Accession:
- VCV000941113.3
- Variation ID:
- 941113
- Description:
- 1bp deletion
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NM_005591.4(MRE11):c.552del (p.Pro185fs)
- Allele ID
- 935859
- Variant type
- Deletion
- Variant length
- 1 bp
- Cytogenetic location
- 11q21
- Genomic location
- 11: 94476396 (GRCh38) GRCh38 UCSC
- 11: 94209562 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_005591.4:c.552del MANE Select NP_005582.1:p.Pro185fs frameshift NM_001330347.2:c.552del NP_001317276.1:p.Pro185fs frameshift NM_005590.4:c.552del NP_005581.2:p.Pro185fs frameshift NC_000011.10:g.94476397del NC_000011.9:g.94209563del NG_007261.1:g.22479del LRG_85:g.22479del LRG_85t1:c.552del - Protein change
- P185fs
- Other names
- -
- Canonical SPDI
- NC_000011.10:94476395:AA:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- dbSNP: rs1946857788
- 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 | Oct 12, 2019 | RCV001210830.3 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Oct 12, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Ataxia-telangiectasia-like disorder
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV001382338.3
First in ClinVar: Jul 16, 2020 Last updated: May 16, 2022 |
Comment:
This sequence change creates a premature translational stop signal (p.Pro185Glnfs*14) 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.Pro185Glnfs*14) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MRE11-related conditions. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). 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 |
Text-mined citations for rs1946857788...
HelpThese 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 30, 2022