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NM_005591.4(MRE11):c.1671C>T (p.Asp557=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2
First in ClinVar:
Mar 24, 2015
Most recent Submission:
Dec 3, 2022
Last evaluated:
Sep 7, 2021
Accession:
VCV000187234.7
Variation ID:
187234
Description:
single nucleotide variant
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NM_005591.4(MRE11):c.1671C>T (p.Asp557=)

Allele ID
183508
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q21
Genomic location
11: 94447331 (GRCh38) GRCh38 UCSC
11: 94180497 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005591.4:c.1671C>T MANE Select NP_005582.1:p.Asp557= synonymous
NM_001330347.2:c.1671C>T NP_001317276.1:p.Asp557= synonymous
NM_005590.4:c.1671C>T NP_005581.2:p.Asp557= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:94447330:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA197115
dbSNP: rs759466399
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 3, 2014 RCV000166949.2
Likely benign 1 criteria provided, single submitter Sep 7, 2021 RCV002228976.3
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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
Likely benign
(Sep 07, 2021)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002509553.1
First in ClinVar: May 16, 2022
Last updated: May 16, 2022
Likely benign
(Dec 03, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin: germline
Ambry Genetics
Accession: SCV000217769.6
First in ClinVar: Mar 24, 2015
Last updated: Dec 03, 2022
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Number of individuals with the variant: 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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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 rs759466399...

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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 Dec 03, 2022