Thrombocytopenia usually remains only disease manifestation throughout life
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 2
- First in ClinVar:
- Oct 5, 2015
- Most recent Submission:
- Oct 1, 2022
- Last evaluated:
- Feb 1, 2005
- Accession:
- VCV000014080.3
- Variation ID:
- 14080
- Description:
- 1bp deletion
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NM_002473.6(MYH9):c.5821del (p.Asp1941fs)
- Allele ID
- 29119
- Variant type
- Deletion
- Variant length
- 1 bp
- Cytogenetic location
- 22q12.3
- Genomic location
- 22: 36282730 (GRCh38) GRCh38 UCSC
- 22: 36678776 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_002473.6:c.5821del MANE Select NP_002464.1:p.Asp1941fs frameshift NC_000022.11:g.36282733del NC_000022.10:g.36678779del NG_011884.2:g.110289del LRG_567:g.110289del LRG_567t1:c.5821del LRG_567p1:p.Asp1941fs - Protein change
- D1941fs
- Other names
- NP_002464.1:p.Asp1941MetfsTer7
- Canonical SPDI
- NC_000022.11:36282729:CCCC:CCC
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA257099
- OMIM: 160775.0011
- dbSNP: rs587776808
- VarSome
- Comment on variant
- NCBI staff reviewed the sequence information reported in PubMed 15667538 Fig. 2 to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 2 | no assertion criteria provided | Feb 1, 2005 | RCV000015131.30 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Feb 01, 2005)
|
no assertion criteria provided
Method: literature only
|
MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS
Affected status: not provided
Allele origin:
unknown
|
OMIM
Accession: SCV000035388.3
First in ClinVar: Apr 04, 2013 Last updated: Jun 30, 2018 |
Comment on evidence:
Kunishima et al. (2005) found a 1-bp deletion, 5818delG, in the MYH9 gene as the cause of May-Hegglin anomaly (MATINS; 155100) in a 1-year-old boy. … (more)
Kunishima et al. (2005) found a 1-bp deletion, 5818delG, in the MYH9 gene as the cause of May-Hegglin anomaly (MATINS; 155100) in a 1-year-old boy. The deletion resulted in frameshift and premature termination. Kunishima et al. (2005) found that the father was a somatic mosaic for this mutation. The father had normal platelet counts; however, both normal-sized and giant platelets were observed on his peripheral blood smears. In addition, 14% of neutrophils contained inclusion bodies, and the rest showed a normal morphology. Quantitative fluorescent PCR analysis showed that only 6% of DNA from peripheral blood leukocytes harbored the mutation. The mutation was demonstrated in a similar frequency in different tissues, buccal mucosa cells, and hair bulb cells, implying that the mutation had occurred during gastrulation. Kunishima et al. (2005) concluded that mosaicism may account for some de novo mutations in MYH9 disorders. (less)
|
|
|
not provided
(-)
|
no assertion provided
Method: literature only
|
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV000240235.3
First in ClinVar: Oct 05, 2015 Last updated: Oct 01, 2022 |
Comment:
Thrombocytopenia usually remains only disease manifestation throughout life
|
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 |
|---|---|---|---|---|
| MYH9-Related Disease. | Adam MP | - | 2021 | PMID: 20301740 |
| MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. | Pecci A | Human mutation | 2014 | PMID: 24186861 |
| First description of somatic mosaicism in MYH9 disorders. | Kunishima S | British journal of haematology | 2005 | PMID: 15667538 |
Text-mined citations for rs587776808...
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 11, 2022