Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_005591.3(MRE11):c.1783+5G>C

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 25, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000127975.9
Variation ID:
127975
Description:
single nucleotide variant
Help

NM_005591.3(MRE11):c.1783+5G>C

Allele ID
133432
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q21
Genomic location
11: 94447214 (GRCh38) GRCh38 UCSC
11: 94180380 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005591.3:c.1783+5G>C
LRG_85t1:c.1783+5G>C
NC_000011.10:g.94447214C>G
... more HGVS
Protein change
-
Other names
IVS15+5G>C
Canonical SPDI
NC_000011.10:94447213:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00223
The Genome Aggregation Database (gnomAD), exomes 0.00067
Exome Aggregation Consortium (ExAC) 0.00069
1000 Genomes Project 0.00220
The Genome Aggregation Database (gnomAD) 0.00261
Trans-Omics for Precision Medicine (TOPMed) 0.00282
Links
ClinGen: CA331836
dbSNP: rs142082313
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Feb 12, 2020 RCV000589610.5
Benign 1 criteria provided, single submitter Nov 24, 2014 RCV000115910.11
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV001080166.2
Uncertain significance 1 criteria provided, single submitter Feb 14, 2020 RCV001287216.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 24, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000186079.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder
Allele origin: germline
Invitae
Accession: SCV000253446.9
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 12, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000149819.11
Submitted: (Sep 25, 2021)
Evidence details
Likely benign
(Jun 16, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698605.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The MRE11A c.1783+5G>C variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. … (more)
Benign
(Jan 21, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842792.2
Submitted: (Sep 25, 2019)
Evidence details
Uncertain significance
(Feb 14, 2020)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder 1
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001473883.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The MRE11 c.1783+5G>C variant (rs142082313), to our knowledge, is not reported in the medical literature but is reported as benign/likely benign in the ClinVar database … (more)

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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs142082313...

Help
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 Sep 26, 2021