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NM_005591.4(MRE11):c.845+8T>C

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Jun 8, 2021
Most recent Submission:
May 16, 2022
Last evaluated:
Jul 30, 2019
Accession:
VCV001144267.4
Variation ID:
1144267
Description:
single nucleotide variant
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NM_005591.4(MRE11):c.845+8T>C

Allele ID
1143051
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q21
Genomic location
11: 94471566 (GRCh38) GRCh38 UCSC
11: 94204732 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005591.4:c.845+8T>C MANE Select
NM_001330347.2:c.845+8T>C
NM_005590.4:c.845+8T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:94471565:A:G
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 Jul 30, 2019 RCV001482680.4
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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
(Jul 30, 2019)
 criteria provided, single submitter
(Invitae Variant Classification Sherloc (09022015))
Method: clinical testing
 Ataxia-telangiectasia-like disorder
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001687054.2
First in ClinVar: Jun 08, 2021
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 

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