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NM_005591.4(MRE11):c.1896C>T (p.Ser632=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
May 16, 2022
Most recent Submission:
May 16, 2022
Last evaluated:
Apr 10, 2021
Accession:
VCV001681557.3
Variation ID:
1681557
Description:
single nucleotide variant
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NM_005591.4(MRE11):c.1896C>T (p.Ser632=)

Allele ID
1673461
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q21
Genomic location
11: 94437207 (GRCh38) GRCh38 UCSC
11: 94170373 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005591.4:c.1896C>T MANE Select NP_005582.1:p.Ser632= synonymous
NM_001330347.2:c.1893C>T NP_001317276.1:p.Ser631= synonymous
NM_005590.4:c.1812C>T NP_005581.2:p.Ser604= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:94437206:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Apr 10, 2021 RCV002239651.3
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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
(Apr 10, 2021)
criteria provided, single submitter
Method: clinical testing
Ataxia-telangiectasia-like disorder
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV002509481.1
First in ClinVar: May 16, 2022
Last updated: May 16, 2022

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.

Record last updated Oct 30, 2022