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NM_001025203.1(U2AF1):c.470A>G (p.Gln157Arg)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 18, 2016)
Last evaluated:
Oct 2, 2014
Accession:
VCV000376023.1
Variation ID:
376023
Description:
single nucleotide variant
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NM_001025203.1(U2AF1):c.470A>G (p.Gln157Arg)

Allele ID
362902
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 43094667 (GRCh38) GRCh38 UCSC
21: 44514777 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.44514777T>C
NC_000021.9:g.43094667T>C
NM_001025203.1:c.470A>G NP_001020374.1:p.Gln157Arg missense
... more HGVS
Protein change
Q157R, Q84R
Other names
-
Canonical SPDI
NC_000021.9:43094666:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA16602492
dbSNP: rs371246226
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 no assertion criteria provided Oct 2, 2014 RCV000444682.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
U2AF1 - - GRCh38
GRCh37
4 84

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Acute myeloid leukemia
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504776.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

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
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Graubert TA Nature genetics 2011 PMID: 22158538
http://docm.genome.wustl.edu/variants/ENST00000291552:c.470A>G - - - -

Text-mined citations for rs371246226...

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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 Jul 24, 2021