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NM_005591.4(MRE11):c.552del (p.Pro185fs)

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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:
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
Nucleotide Protein Molecular
consequence
NM_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
... more HGVS
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
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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 Oct 12, 2019 RCV001210830.3
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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

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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
Publications:
PubMed (2)
PubMed: 2308012123912341
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)

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
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...

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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 30, 2022