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NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 24, 2020
Accession:
VCV000436614.4
Variation ID:
436614
Description:
single nucleotide variant
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NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg)

Allele ID
430419
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.12
Genomic location
21: 34834566 (GRCh38) GRCh38 UCSC
21: 36206863 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.36206863C>T
NC_000021.9:g.34834566C>T
NG_011402.2:g.1155146G>A
... more HGVS
Protein change
G217R, G190R
Other names
-
Canonical SPDI
NC_000021.9:34834565:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
ClinGen: CA10014385
dbSNP: rs749004431
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 16, 2017 RCV000501810.1
Uncertain significance 1 criteria provided, single submitter Aug 24, 2020 RCV000694237.4
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765505.1
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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
Uncertain significance
(Feb 16, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000596878.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(Aug 24, 2020)
criteria provided, single submitter
Method: clinical testing
Familial platelet disorder with associated myeloid malignancy
Allele origin: germline
Invitae
Accession: SCV000822672.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces glycine with arginine at codon 217 of the RUNX1 protein (p.Gly217Arg). The glycine residue is moderately conserved and there is a … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Familial platelet disorder with associated myeloid malignancy
Acute myeloid leukemia
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896808.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

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
Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies. Drazer MW Blood advances 2018 PMID: 29365323
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Childhood B-cell precursor acute lymphoblastic leukaemia in a patient with familial thrombocytopenia and RUNX1 mutation. Linden T British journal of haematology 2010 PMID: 20880108

Text-mined citations for rs749004431...

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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