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NM_002473.6(MYH9):c.5800del (p.Met1934fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Jul 27, 2019
Most recent Submission:
Jul 27, 2019
Last evaluated:
Dec 12, 2018
Accession:
VCV000623111.2
Variation ID:
623111
Description:
1bp deletion
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NM_002473.6(MYH9):c.5800del (p.Met1934fs)

Allele ID
612058
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
22q12.3
Genomic location
22: 36282751 (GRCh38) GRCh38 UCSC
22: 36678797 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_002473.6:c.5800del MANE Select NP_002464.1:p.Met1934fs frameshift
NC_000022.11:g.36282752del
NC_000022.10:g.36678798del
... more HGVS
Protein change
M1934fs
Other names
-
Canonical SPDI
NC_000022.11:36282750:TT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1603482652
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 12, 2018 RCV000790364.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYH9 - - GRCh38
GRCh37 		1063 1102

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Likely pathogenic
(Dec 12, 2018)
 criteria provided, single submitter
(ACMG Guidelines, 2015)
Method: research
 MYH9-related disorder
(Autosomal dominant inheritance)
Affected status: yes
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000891157.1
First in ClinVar: Jul 27, 2019
Last updated: Jul 27, 2019
Comment:
PS4, #PM4, PM2, PM1, PP4
Zygosity: 1 Single Heterozygote
Sex: male
Ethnicity/Population group: European

Functional evidence

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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

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Title Author Journal Year Link
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. Bury L Human mutation 2020 PMID: 31562665

Text-mined citations for rs1603482652...

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These 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 25, 2022 

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