chr10:88989499:G>A Detail (hg38) (ACTA2, FAS, LOC130004293)

Information

Genome

Assembly Position
hg19 chr10:90,749,256-90,749,256 View the variant detail on this assembly version.
hg38 chr10:88,989,499-88,989,499

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000415557.2:c.-24+1440C>T
ENST00000458159.6:c.-24+1523C>T
Type Transcript Protein
RefSeq
Ensemble ENST00000690268.1:c.31G>A ENST00000690268.1:p.Ala11Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.417
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.418

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 102620 OMIM
HGNC 130 HGNC
Ensembl ENSG00000107796 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40124904 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 134637 OMIM
HGNC 11920 HGNC
Ensembl ENSG00000026103 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40124904 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2005-06-01 no assertion criteria provided LUNG CANCER, SUSCEPTIBILITY TO germline Detail
Benign 2024-01-24 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Squamous cell carcinoma of oropharynx Thus, we determined the associations between four FAS and FASLG promoter variant... BeFree 25976983 Detail
<0.001 Squamous cell carcinoma of oropharynx Thus, we determined the associations between four FAS and FASLG promoter variant... BeFree 25976983 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001141945.3(ACTA2):c.-24+1440C>T AND LUNG CANCER, SUSCEPTIBILITY TO ClinVar Detail
NM_001141945.3(ACTA2):c.-24+1440C>T AND not specified ClinVar Detail
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G&gt;A, rs... DisGeNET Detail
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G&gt;A, rs... 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
rs2234767 dbSNP
Genome
hg38
Position
chr10:88,989,499-88,989,499
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2234767
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4174
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6996
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8192
East Asian Allele Counts (ExAC)
3423
East Asian Heterozygous Counts (ExAC)
1995
East Asian Homozygous Counts (ExAC)
714
East Asian Allele Frequency (ExAC)
0.4178466796875
Chromosome Counts in All Race (ExAC)
112738
Allele Counts in All Race (ExAC)
16630
Heterozygous Counts in All Race (ExAC)
13252
Homozygous Counts in All Race (ExAC)
1689
Allele Frequency in All Race (ExAC)
0.1475101562915787
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