ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Jul 9, 2022
- Most recent Submission:
- Jul 9, 2022
- Last evaluated:
- Jul 1, 2022
- Accession:
- VCV001693533.1
- Variation ID:
- 1693533
- Description:
- single nucleotide variant
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NM_001315494.2(MYMX):c.136C>T (p.Arg46Ter)
- Allele ID
- 1685967
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 6p21.1
- Genomic location
- 6: 44217607 (GRCh38) GRCh38 UCSC
- 6: 44185344 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001315494.2:c.136C>T MANE Select NP_001302423.1:p.Arg46Ter nonsense NM_001318876.2:c.946-224283C>T intron variant NM_001347931.2:c.136C>T NP_001334860.1:p.Arg46Ter nonsense NC_000006.12:g.44217607C>T NC_000006.11:g.44185344C>T NG_028283.4:g.705520C>T NG_042893.1:g.3103C>T NG_108345.1:g.410C>T LRG_1027:g.3103C>T - Protein change
- R46*
- Other names
- -
- Canonical SPDI
- NC_000006.12:44217606:C:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- OMIM: 619912.0001
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Jul 1, 2022 | RCV002260936.8 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Jul 01, 2022)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV002540635.1
First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022 |
Comment on evidence:
In 2 sibs with Carey-Fineman-Ziter syndrome-2 (CFZS2; 619941), Ramirez-Martinez et al. (2022) identified a homozygous c.136C-T transition (c.136C-T, NM_001315494.2) in the MYMX gene, resulting in … (more)
In 2 sibs with Carey-Fineman-Ziter syndrome-2 (CFZS2; 619941), Ramirez-Martinez et al. (2022) identified a homozygous c.136C-T transition (c.136C-T, NM_001315494.2) in the MYMX gene, resulting in an arg46-to-ter (R46X) substitution. The mutation, which was identified by trio whole-exome sequencing, was present in heterozygous state in the parents. The mutation resulted in loss of the extracellular ectodomain. Evaluation of skeletal muscle cells derived from (iPSCs) from one of the patients showed abnormal fusogenic activity. (less)
|
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| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome. | Ramirez-Martinez A | The Journal of clinical investigation | 2022 | PMID: 35642635 |
Record last updated Nov 25, 2023