chr19:33301847:A>G Detail (hg38) (CEBPA)

Information

Genome

Assembly Position
hg19 chr19:33,792,753-33,792,753 View the variant detail on this assembly version.
hg38 chr19:33,301,847-33,301,847

HGVS

Type Transcript Protein
RefSeq NM_001285829.1:c.568T>C NP_001272758.1:p.Ser190Pro
NM_001287424.1:c.568T>C NP_001274353.1:p.Ser190Pro
NM_001287435.1:c.568T>C NP_001274364.1:p.Ser190Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.004
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 116897 OMIM
HGNC 1833 HGNC
Ensembl ENSG00000245848 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61844122 TogoVar
COSMIC COSM6942988 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-04-23 criteria provided, single submitter acute myeloid leukemia germline Detail
Uncertain significance 2021-11-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro) AND Acute myeloid leukemia ClinVar Detail
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro) AND not provided ClinVar 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
rs867463920 dbSNP
Genome
hg38
Position
chr19:33,301,847-33,301,847
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
801
Mean of sample read depth (HGVD)
17.23
Standard deviation of sample read depth (HGVD)
7.20
Number of reference allele (HGVD)
1595
Number of alternative allele (HGVD)
7
Allele Frequency (HGVD)
0.004369538077403246
Gene Symbol (HGVD)
CEBPA
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs867463920
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16740
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