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NM_005591.4(MRE11):c.140C>T (p.Ala47Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Feb 15, 2019
Accession:
VCV000180713.4
Variation ID:
180713
Description:
single nucleotide variant
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NM_005591.4(MRE11):c.140C>T (p.Ala47Val)

Allele ID
178875
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q21
Genomic location
11: 94490846 (GRCh38) GRCh38 UCSC
11: 94224012 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.94490846G>A
NC_000011.9:g.94224012G>A
NM_005591.4:c.140C>T MANE Select NP_005582.1:p.Ala47Val missense
... more HGVS
Protein change
A47V
Other names
-
Canonical SPDI
NC_000011.10:94490845:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA185954
OMIM: 600814.0006
dbSNP: rs730880378
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Mar 23, 2017 RCV000157663.7
Uncertain significance 1 criteria provided, single submitter Feb 15, 2019 RCV001011397.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MRE11 - - GRCh38
GRCh37
1223 1250

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 23, 2017)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder
Allele origin: germline
Invitae
Accession: SCV000642119.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces alanine with valine at codon 47 of the MRE11 protein (p.Ala47Val). The alanine residue is highly conserved and there is a … (more)
Uncertain significance
(Feb 15, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001171711.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (3)
Comment:
The p.A47V variant (also known as c.140C>T), located in coding exon 2 of the MRE11A gene, results from a C to T substitution at nucleotide … (more)
Pathogenic
(Feb 15, 2014)
no assertion criteria provided
Method: literature only
ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
Allele origin: germline
OMIM
Accession: SCV000207624.3
Submitted: (Feb 16, 2015)
Evidence details
Publications
PubMed (1)

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
Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer. Kim H Breast cancer research and treatment 2017 PMID: 27783279
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? Yoshida T American journal of medical genetics. Part A 2014 PMID: 24733832
Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia. Miyamoto R Journal of the neurological sciences 2014 PMID: 24332946

Text-mined citations for rs730880378...

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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 Aug 03, 2021