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NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile)

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Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
1 (Most recent: Mar 6, 2020)
Last evaluated:
Jan 14, 2020
Accession:
VCV000869207.1
Variation ID:
869207
Description:
single nucleotide variant
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NM_001754.5(RUNX1):c.506G>T (p.Arg169Ile)

Allele ID
857423
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.12
Genomic location
21: 34880559 (GRCh38) GRCh38 UCSC
21: 36252856 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_482:g.1109153G>T
LRG_482t1:c.506G>T
NC_000021.8:g.36252856C>A
... more HGVS
Protein change
R142I, R169I
Other names
-
Canonical SPDI
NC_000021.9:34880558:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 reviewed by expert panel Jan 14, 2020 RCV001078212.1
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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
Likely pathogenic
(Jan 14, 2020)
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: SCV001244321.1
Submitted: (Mar 06, 2020)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The NM_001754.4:c.506G>T (p.Arg169Ile) variant affects one of the hotspot residues established by the MM-VCEP for RUNX1 (PM1). This variant is completely absent from all population … (more)

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/35141b76-e7bf-4e0e-977a-0f8379520709 - - - -

Record last updated Oct 08, 2021