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NM_001754.4(RUNX1):c.557T>A (p.Val186Asp)

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Interpretation:
Uncertain significance​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
2 (Most recent: Aug 8, 2019)
Last evaluated:
Jul 30, 2019
Accession:
VCV000212089.2
Variation ID:
212089
Description:
single nucleotide variant
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NM_001754.4(RUNX1):c.557T>A (p.Val186Asp)

Allele ID
208712
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.12
Genomic location
21: 34859530 (GRCh38) GRCh38 UCSC
21: 36231827 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_482:g.1130182T>A
NC_000021.9:g.34859530A>T
LRG_482t1:c.557T>A LRG_482p1:p.Val186Asp
... more HGVS
Protein change
V186D, V159D
Other names
NM_001754.4(RUNX1):c.557T>A
Canonical SPDI
NC_000021.9:34859529:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA248819
dbSNP: rs797045927
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 reviewed by expert panel Jul 30, 2019 RCV000192486.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RUNX1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
827 890

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 30, 2019)
reviewed by expert panel
Method: curation
Familial platelet disorder with associated myeloid malignancy
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen Myeloid Malignancy Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV000965621.1
Submitted: (Aug 08, 2019)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The NM_001754.4:c.557T>A (p.Val186Asp) missense variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2). It has a REVEL score … (more)
Likely pathogenic
(Jun 29, 2015)
criteria provided, single submitter
Method: clinical testing
Platelet disorder, familial, with associated myeloid malignancy
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000248756.1
Submitted: (Sep 15, 2015)
Evidence details

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
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/3ff9a59f-f463-4e1a-942e-a60afc15686a - - - -

Text-mined citations for rs797045927...

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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 Oct 08, 2021