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NM_005591.4(MRE11):c.1225+19T>C

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 20, 2021)
Last evaluated:
May 4, 2016
Accession:
VCV000193884.3
Variation ID:
193884
Description:
single nucleotide variant
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NM_005591.4(MRE11):c.1225+19T>C

Allele ID
191047
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q21
Genomic location
11: 94464094 (GRCh38) GRCh38 UCSC
11: 94197260 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.94464094A>G
NC_000011.9:g.94197260A>G
NG_007261.1:g.34781T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:94464093:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.38878 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.37831
The Genome Aggregation Database (gnomAD), exomes 0.38152
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.35213
The Genome Aggregation Database (gnomAD) 0.35546
Trans-Omics for Precision Medicine (TOPMed) 0.36524
The Genome Aggregation Database (gnomAD) 0.36577
Trans-Omics for Precision Medicine (TOPMed) 0.36952
1000 Genomes Project 0.38878
Links
ClinGen: CA200836
dbSNP: rs641936
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Mar 4, 2015 RCV000174111.2
Benign 2 criteria provided, multiple submitters, no conflicts May 4, 2016 RCV000586234.3
Benign 1 criteria provided, single submitter Apr 14, 2016 RCV000412379.1
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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
1231 1258

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 04, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000225354.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001759925.1
Submitted: (Jul 20, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000311118.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Apr 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder 1
Allele origin: unknown
Counsyl
Accession: SCV000488518.1
Submitted: (Nov 23, 2016)
Evidence details
Benign
(May 04, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698603.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: c.1225+19T>C in MRE11A gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not … (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
Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene. Bartkova J Molecular oncology 2008 PMID: 19383352
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MRE11 - - - -

Text-mined citations for rs641936...

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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 Nov 27, 2021