chr19:48737706:A>T Detail (hg19) (CARD8)

Information

Genome

Assembly Position
hg19 chr19:48,737,706-48,737,706
hg38 chr19:48,234,449-48,234,449 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001184900.1:c.304T>A NP_001171829.1:p.Phe102Ile
NM_001184901.1:c.154T>A NP_001171830.1:p.Phe52Ile
NM_001184903.1:c.304T>A NP_001171832.1:p.Phe102Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.384
ToMMo:0.384
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.499

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 609051 OMIM
HGNC 17057 HGNC
Ensembl ENSG00000105483 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62391221 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Thickening of pleura The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs... BeFree 24142982 Detail
<0.001 Thickening of pleura The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs... BeFree 24142982 Detail
<0.001 Thickening of pleura The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs... BeFree 24142982 Detail
0.009 rheumatoid arthritis The combination of the polymorphisms CARD8 (C10X)and NALP3 (Q705K) was recently ... BeFree 19319132 Detail
<0.001 Ischemic Cerebrovascular Accident Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleoti... BeFree 24385277 Detail
0.141 Crohn Disease Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's dise... BeFree 20182451 Detail
<0.001 First myocardial infarction The CARD8 rs2043211 polymorphism was analysed by genotyping of two Swedish MI co... BeFree 23611467 Detail
0.002 Inflammatory Bowel Diseases Association between CARD8 rs2043211 polymorphism and inflammatory bowel disease:... BeFree 25564880 Detail
0.009 Crohn Disease No association of the CARD8 (TUCAN) c.30T&gt;A (p.C10X) variant with Crohn's dis... BeFree 18092344 Detail
<0.001 Dyslipidemias Interaction between rs2043211 and rs35829419 was observed in this dataset (χ(2)=... BeFree 21621776 Detail
<0.001 Ischemic stroke Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleoti... BeFree 24385277 Detail
0.560 Crohn Disease We found that the presence of the minor allele of rs2043211 with the major allel... BeFree 20182451 Detail
0.009 Crohn Disease Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's dise... BeFree 20182451 Detail
0.010 rheumatoid arthritis Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid... BeFree 22128899 Detail
0.397 Inflammatory Bowel Diseases Previous studies examining the association of a CARD8 single-nucleotide polymorp... BeFree 21248762 Detail
0.009 Crohn Disease [Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn\'s di... GAD 20182451 Detail
0.002 Inflammatory Bowel Diseases However, studies testing for the association of the CARD8 loss-of-function singl... BeFree 20182451 Detail
<0.001 Ischemic stroke Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleoti... BeFree 24385277 Detail
<0.001 Cerebrovascular accident The minor T allele of a previously identified CARD8 variant (rs2043211) was foun... BeFree 24385277 Detail
0.009 Crohn Disease The CARD8 p.C10X mutation associates with a low anti-glycans antibody response i... BeFree 23506543 Detail
0.006 rheumatoid arthritis One thousand six hundred twenty-one patients fulfilling the 1987 ACR classificat... BeFree 23088220 Detail
0.009 rheumatoid arthritis CARD8 p.C10X polymorphism is associated with inflammatory activity in early rheu... BeFree 19443463 Detail
0.144 ulcerative colitis The stop allele of rs2043211 was associated with higher serum interleukin-1β lev... BeFree 21248762 Detail
<0.001 Ischemic Cerebrovascular Accident Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleoti... BeFree 24385277 Detail
0.009 rheumatoid arthritis Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid... BeFree 22128899 Detail
0.010 rheumatoid arthritis The combination of the polymorphisms CARD8 (C10X)and NALP3 (Q705K) was recently ... BeFree 19319132 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001184900.3(CARD8):c.304T>A (p.Phe102Ile) AND not provided ClinVar Detail
The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs1800470 SNPs were as... DisGeNET Detail
The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs1800470 SNPs were as... DisGeNET Detail
The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs1800470 SNPs were as... DisGeNET Detail
The combination of the polymorphisms CARD8 (C10X)and NALP3 (Q705K) was recently shown to be associat... DisGeNET Detail
Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleotide polymorphism rs20... DisGeNET Detail
Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease. DisGeNET Detail
The CARD8 rs2043211 polymorphism was analysed by genotyping of two Swedish MI cohorts, FIA (First My... DisGeNET Detail
Association between CARD8 rs2043211 polymorphism and inflammatory bowel disease: a meta-analysis. DisGeNET Detail
No association of the CARD8 (TUCAN) c.30T&gt;A (p.C10X) variant with Crohn's disease: a study in 3 i... DisGeNET Detail
Interaction between rs2043211 and rs35829419 was observed in this dataset (χ(2)=6.22; p=0.044), whic... DisGeNET Detail
Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleotide polymorphism rs20... DisGeNET Detail
We found that the presence of the minor allele of rs2043211 with the major allele of rs35829419 conf... DisGeNET Detail
Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease. DisGeNET Detail
Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French... DisGeNET Detail
Previous studies examining the association of a CARD8 single-nucleotide polymorphism (SNP) (rs204321... DisGeNET Detail
[Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn\'s disease.] DisGeNET Detail
However, studies testing for the association of the CARD8 loss-of-function single-nucleotide polymor... DisGeNET Detail
Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleotide polymorphism rs20... DisGeNET Detail
The minor T allele of a previously identified CARD8 variant (rs2043211) was found to be significantl... DisGeNET Detail
The CARD8 p.C10X mutation associates with a low anti-glycans antibody response in patients with Croh... DisGeNET Detail
One thousand six hundred twenty-one patients fulfilling the 1987 ACR classification criteria for RA ... DisGeNET Detail
CARD8 p.C10X polymorphism is associated with inflammatory activity in early rheumatoid arthritis. DisGeNET Detail
The stop allele of rs2043211 was associated with higher serum interleukin-1β levels only in female p... DisGeNET Detail
Regulation of CARD8 expression by ANRIL and association of CARD8 single nucleotide polymorphism rs20... DisGeNET Detail
Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French... DisGeNET Detail
The combination of the polymorphisms CARD8 (C10X)and NALP3 (Q705K) was recently shown to be associat... 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
rs2043211 dbSNP
Genome
hg19
Position
chr19:48,737,706-48,737,706
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1135
Mean of sample read depth (HGVD)
40.04
Standard deviation of sample read depth (HGVD)
48.55
Number of reference allele (HGVD)
1398
Number of alternative allele (HGVD)
872
Allele Frequency (HGVD)
0.3841409691629956
Gene Symbol (HGVD)
CARD8
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))
rs2043211
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3835
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6428
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
4309
East Asian Heterozygous Counts (ExAC)
2157
East Asian Homozygous Counts (ExAC)
1076
East Asian Allele Frequency (ExAC)
0.49861143253876417
Chromosome Counts in All Race (ExAC)
121378
Allele Counts in All Race (ExAC)
39617
Heterozygous Counts in All Race (ExAC)
26011
Homozygous Counts in All Race (ExAC)
6803
Allele Frequency in All Race (ExAC)
0.3263935803852428
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