chr21:43094667:T>G Detail (hg38) (U2AF1)

Information

Genome

Assembly Position
hg19 chr21:44,514,777-44,514,777 View the variant detail on this assembly version.
hg38 chr21:43,094,667-43,094,667

HGVS

Type Transcript Protein
RefSeq NM_006758.2:c.470A>C NP_006749.1:p.Gln157Pro
NM_001025203.1:c.470A>C NP_001020374.1:p.Gln157Pro
Ensemble ENST00000291552.9:c.470A>C ENST00000291552.9:p.Gln157Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191317 OMIM
HGNC 12453 HGNC
Ensembl ENSG00000160201 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1318797 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-03-10 no assertion criteria provided acute myeloid leukemia somatic Detail
not provided 2016-03-10 no assertion provided myelodysplastic syndrome somatic Detail
Likely pathogenic 2022-03-15 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia B Diagnostic Does Not Support Positive Somatic 3 23029227 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 2 23029227 Detail
myelodysplastic syndrome B Prognostic Does Not Support N/A Somatic 2 23029227 Detail
myelodysplastic syndrome B Prognostic Supports Poor Outcome Somatic 3 23861105 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 de novo myelodysplastic syndromes We previously identified missense mutations in the U2AF1 splicing factor affecti... BeFree 25311244 Detail
<0.001 Miller Dieker syndrome We previously identified missense mutations in the U2AF1 splicing factor affecti... BeFree 25311244 Detail
<0.001 de novo myelodysplastic syndromes We previously identified missense mutations in the U2AF1 splicing factor affecti... BeFree 25311244 Detail
Annotation

Annotations

DescrptionSourceLinks
Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2... CIViC Evidence Detail
In patients with AML, those who harbor Q157P/R mutation of U2AF1 do not show a statistically signifi... CIViC Evidence Detail
In patients with MDS, those who harbor Q157P/R mutation of U2AF do not show statistical significance... CIViC Evidence Detail
After adjusting for age and cancer stage, presence of U2AF mutation such as Q157P/R is prognostic fo... CIViC Evidence Detail
NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro) AND Acute myeloid leukemia ClinVar Detail
NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro) AND Myelodysplastic syndrome ClinVar Detail
NM_006758.3(U2AF1):c.470A>C (p.Gln157Pro) AND not provided ClinVar Detail
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F ... DisGeNET Detail
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F ... DisGeNET Detail
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs371246226 dbSNP
Genome
hg38
Position
chr21:43,094,667-43,094,667
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1582117211026175E-4
Chromosome Counts in All Race (ExAC)
121008
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.305566574110803E-5
Variant (CIViC) (CIViC Variant)
Q157P/R
Transcript 1 (CIViC Variant)
ENST00000291552.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/127
Summary (CIViC Variant)
U2AF1 Q157P/R has been shown to be a recurrent mutation in acute myeloid leukemia (AML), myelodysplastic syndromes (MDS) and lung adenocarcinomas. This mutation is less common than the S34F mutation, occurs in the second zinc finger domain of U2AF1 and has been demonstrated to alter splicing. The impact of U2AF1 mutations on overall survival in MDS has been debated, however, patients with U2AF1 mutations were shown to be at an increased risk of transformation to secondary AML. The presence of this mutation was not associated with a specific prognostic outcome in AML when compared to U2AF1 wildtype patients.
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