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NM_002473.6(MYH9):c.5785del (p.Val1929fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
May 12, 2020
Most recent Submission:
Jan 21, 2023
Last evaluated:
Jan 1, 2020
Accession:
VCV000871829.13
Variation ID:
871829
Description:
1bp deletion
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NM_002473.6(MYH9):c.5785del (p.Val1929fs)

Allele ID
860723
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
22q12.3
Genomic location
22: 36282766 (GRCh38) GRCh38 UCSC
22: 36678812 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_002473.6:c.5785del MANE Select NP_002464.1:p.Val1929fs frameshift
NC_000022.11:g.36282766del
NC_000022.10:g.36678812del
... more HGVS
Protein change
V1929fs
Other names
-
Canonical SPDI
NC_000022.11:36282765:C:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2016513741
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 Jan 1, 2020 RCV001092003.9
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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
(Jan 01, 2020)
 criteria provided, single submitter
(Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)
Method: clinical testing
 not provided
Affected status: yes
Allele origin: germline
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001248331.13
First in ClinVar: May 12, 2020
Last updated: Jan 21, 2023
Number of individuals with the variant: 1

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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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 rs2016513741...

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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 Jan 21, 2023 

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