rs4802449
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001184900.3(CARD8):c.350+954C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.367 in 455,348 control chromosomes in the GnomAD database, including 31,960 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.39 ( 12064 hom., cov: 33)
Exomes 𝑓: 0.36 ( 19896 hom. )
Consequence
CARD8
NM_001184900.3 intron
NM_001184900.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0580
Genes affected
CARD8 (HGNC:17057): (caspase recruitment domain family member 8) The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.96).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.513 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CARD8 | NM_001184900.3 | c.350+954C>T | intron_variant | ENST00000651546.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CARD8 | ENST00000651546.1 | c.350+954C>T | intron_variant | NM_001184900.3 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.388 AC: 58898AN: 151958Hom.: 12060 Cov.: 33
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GnomAD3 exomes AF: 0.367 AC: 46855AN: 127748Hom.: 8935 AF XY: 0.365 AC XY: 25552AN XY: 69992
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GnomAD4 exome AF: 0.357 AC: 108358AN: 303272Hom.: 19896 Cov.: 0 AF XY: 0.359 AC XY: 62058AN XY: 172720
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GnomAD4 genome ? AF: 0.388 AC: 58932AN: 152076Hom.: 12064 Cov.: 33 AF XY: 0.385 AC XY: 28640AN XY: 74320
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at