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NM_005591.3(MRE11):c.529G>A (p.Ala177Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 25, 2018
Accession:
VCV000127983.3
Variation ID:
127983
Description:
single nucleotide variant
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NM_005591.3(MRE11):c.529G>A (p.Ala177Thr)

Allele ID
133440
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q21
Genomic location
11: 94478750 (GRCh38) GRCh38 UCSC
11: 94211916 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.94478750C>T
NC_000011.9:g.94211916C>T
NM_001330347.2:c.529G>A NP_001317276.1:p.Ala177Thr missense
... more HGVS
Protein change
A177T
Other names
p.A177T:GCG>ACG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00018
The Genome Aggregation Database (gnomAD), exomes 0.00021
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Exome Aggregation Consortium (ExAC) 0.00021
Links
ClinGen: CA331846
dbSNP: rs142996063
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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, multiple submitters, no conflicts Aug 1, 2018 RCV000115919.14
Uncertain significance 3 criteria provided, multiple submitters, no conflicts Oct 31, 2018 RCV000400887.7
Uncertain significance 1 criteria provided, single submitter Jan 27, 2017 RCV000212559.2
Uncertain significance 1 criteria provided, single submitter Dec 24, 2013 RCV000656867.1
Uncertain significance 1 criteria provided, single submitter Nov 25, 2018 RCV000791435.1
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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
813 836

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 27, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614126.1
Submitted: (Aug 17, 2017)
Evidence details
Uncertain significance
(Aug 15, 2017)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder 1
Allele origin: unknown
Counsyl
Accession: SCV000785465.2
Submitted: (Jun 20, 2018)
Evidence details
Publications
PubMed (4)
Uncertain significance
(May 10, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000183953.5
Submitted: (Jul 30, 2018)
Evidence details
Publications
PubMed (5)
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder 1
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894682.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Dec 24, 2013)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000149828.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted MRE11A c.529G>A at the cDNA level, p.Ala177Thr (A177T) at the protein level, and results in the change of an Alanine to ... (more)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-Telangiectasia-Like Disorder
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000374941.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
GeneKor MSA
Accession: SCV000822037.1
Submitted: (Aug 08, 2018)
Evidence details
Uncertain significance
(Nov 25, 2018)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder
Allele origin: germline
Invitae
Accession: SCV000254867.8
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces alanine with threonine at codon 177 of the MRE11 protein (p.Ala177Thr). The alanine residue is highly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Monogenic and polygenic determinants of sarcoma risk: an international genetic study. Ballinger ML The Lancet. Oncology 2016 PMID: 27498913
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. Li J Journal of medical genetics 2016 PMID: 26534844
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Maxwell KN Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25503501
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. Couch FJ Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 PMID: 25452441
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Castéra L European journal of human genetics : EJHG 2014 PMID: 24549055

Record last updated Oct 27, 2019