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, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Likely benign
- Review status:
- criteria provided, multiple submitters, no conflicts
- Submissions:
- 2
- First in ClinVar:
- May 29, 2016
- Most recent Submission:
- Dec 3, 2022
- Last evaluated:
- Jan 1, 2021
- Accession:
- VCV000229702.7
- Variation ID:
- 229702
- Description:
- single nucleotide variant
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NM_005591.4(MRE11):c.636C>T (p.Asn212=)
- Allele ID
- 234532
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 11q21
- Genomic location
- 11: 94476312 (GRCh38) GRCh38 UCSC
- 11: 94209478 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_005591.4:c.636C>T MANE Select NP_005582.1:p.Asn212= synonymous NM_001330347.2:c.636C>T NP_001317276.1:p.Asn212= synonymous NM_005590.4:c.636C>T NP_005581.2:p.Asn212= synonymous NC_000011.10:g.94476312G>A NC_000011.9:g.94209478G>A NG_007261.1:g.22563C>T LRG_85:g.22563C>T LRG_85t1:c.636C>T LRG_85p1:p.Asn212= - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000011.10:94476311:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- The Genome Aggregation Database (gnomAD), exomes 0.00000
- Links
- ClinGen: CA10579403
- dbSNP: rs876658151
- 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 | Nov 14, 2014 | RCV000220015.2 | |
| Likely benign | 1 | criteria provided, single submitter | Jan 1, 2021 | RCV002229767.3 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely benign
(Jan 01, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Ataxia-telangiectasia-like disorder
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002509541.1
First in ClinVar: May 16, 2022 Last updated: May 16, 2022 |
|
|
|
Likely benign
(Nov 14, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000273010.6
First in ClinVar: May 29, 2016 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)
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, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Number of individuals with the variant: 1
|
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 rs876658151...
HelpThese 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