ClinVar Genomic variation as it relates to human health
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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
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_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 NC_000011.10:g.94437207G>A NC_000011.9:g.94170373G>A NG_007261.1:g.61668C>T LRG_85:g.61668C>T - 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 |
Submitted interpretations and evidence
Help| 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
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. |
Record last updated Oct 30, 2022