Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)

Help
Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
3 (Most recent: Sep 19, 2020)
Last evaluated:
Aug 18, 2019
Accession:
VCV000627342.3
Variation ID:
627342
Description:
single nucleotide variant
Help

NM_001754.5(RUNX1):c.593A>T (p.Asp198Val)

Allele ID
615635
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.12
Genomic location
21: 34859494 (GRCh38) GRCh38 UCSC
21: 36231791 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_482:g.1130218A>T
LRG_482t1:c.593A>T LRG_482p1:p.Asp198Val
NC_000021.8:g.36231791T>A
... more HGVS
Protein change
D198V, D171V
Other names
-
Canonical SPDI
NC_000021.9:34859493:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1569061786
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 reviewed by expert panel Aug 18, 2019 RCV001078215.1
Likely pathogenic 1 criteria provided, single submitter Feb 1, 2019 RCV000852167.1
Likely pathogenic 1 no assertion criteria provided May 1, 2020 RCV001270576.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RUNX1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
827 890

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 18, 2019)
reviewed by expert panel
Method: curation
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen Myeloid Malignancy Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV001244324.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (3)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The NM_001754.4:c.593A>T (p.Asp198Val) variant affects one of the 13 hotspot residues established by the MM-VCEP for RUNX1 (PM1). This variant is completely absent from all … (more)
Likely pathogenic
(Feb 01, 2019)
criteria provided, single submitter
Method: research
Thrombocytopenia
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Study: ThromboGenomics
Accession: SCV000899823.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(May 01, 2020)
no assertion criteria provided
Method: research
Thrombocytopenia
Abnormal bleeding
Allele origin: germline
Birmingham Platelet Group; University of Birmingham
Accession: SCV001450875.1
Submitted: (Sep 19, 2020)
Evidence details

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
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Downes K Blood 2019 PMID: 31064749
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Johnson B Haematologica 2016 PMID: 27479822
Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients. Silva FP Haematologica 2007 PMID: 17650443
Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia. Dicker F Blood 2007 PMID: 17485549
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/05236ec3-500a-4994-b830-31e58ed86bfb - - - -

Text-mined citations for rs1569061786...

Help
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 Oct 24, 2021