chr21:44524456:G>T Detail (hg19) (U2AF1)

Information

Genome

Assembly Position
hg19 chr21:44,524,456-44,524,456
hg38 chr21:43,104,346-43,104,346 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006758.2:c.101C>A NP_006749.1:p.Ser34Tyr
NM_001025203.1:c.101C>A NP_001020374.1:p.Ser34Tyr
Ensemble ENST00000459639.5:c.-119C>A
Summary

MGeND

Clinical significance not provided
Variant entry 28
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 COSM1190367 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided acute myeloid leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided myelodysplastic syndrome somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
CIViC
[No Data.]
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
<0.001 Miller Dieker syndrome These data suggest that the S34F mutation alters U2AF1 function in the context o... BeFree 25311244 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Acute myeloid leukemia ClinVar Detail
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Myelodysplastic syndrome ClinVar Detail
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Uterine carcinosarcoma ClinVar Detail
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Pancreatic adenocarcinoma ClinVar Detail
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Lung adenocarcinoma ClinVar Detail
NM_006758.3(U2AF1):c.101C>A (p.Ser34Tyr) AND Neoplasm of uterine cervix 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
These data suggest that the S34F mutation alters U2AF1 function in the context of specific RNA seque... 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
rs371769427 dbSNP
Genome
hg19
Position
chr21:44,524,456-44,524,456
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8582
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118678
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6852323092738335E-5
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