The MYH9 c.5050C>T (p.Gln1684Ter) variant is a stop gained variant that is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database despite being located in a region of good sequencing coverage. Therefore, it is presumed to be rare. Based on the potential impact of truncating variants and the absence of clarifying evidence, the p.Gln1684Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for MYH9-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- May 27, 2019
- Most recent Submission:
- May 27, 2019
- Last evaluated:
- Aug 17, 2018
- Accession:
- VCV000631893.4
- Variation ID:
- 631893
- Description:
- single nucleotide variant
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NM_002473.6(MYH9):c.5050C>T (p.Gln1684Ter)
- Allele ID
- 620688
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 22q12.3
- Genomic location
- 22: 36682775 (GRCh37) GRCh37 UCSC
- 22: 36286729 (GRCh38) GRCh38 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_002473.6:c.5050C>T MANE Select NP_002464.1:p.Gln1684Ter nonsense NC_000022.11:g.36286729G>A NC_000022.10:g.36682775G>A NG_011884.2:g.106290C>T LRG_567:g.106290C>T - Protein change
- Q1684*
- Other names
- -
- Canonical SPDI
- NC_000022.11:36286728:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- dbSNP: rs1569534723
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Uncertain significance | 1 | criteria provided, single submitter | Aug 17, 2018 | RCV000778658.4 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Aug 17, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
MYH9-related disorder
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services,Illumina
Accession: SCV000914991.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The MYH9 c.5050C>T (p.Gln1684Ter) variant is a stop gained variant that is predicted to result in premature termination of the protein. A literature search was … (more)
The MYH9 c.5050C>T (p.Gln1684Ter) variant is a stop gained variant that is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database despite being located in a region of good sequencing coverage. Therefore, it is presumed to be rare. Based on the potential impact of truncating variants and the absence of clarifying evidence, the p.Gln1684Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for MYH9-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (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| 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 rs1569534723...
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 Apr 09, 2023