17-80181473-C-T
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBS1BS2_Supporting
The NM_001366385.1(CARD14):c.35C>T(p.Thr12Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000109 in 1,586,314 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001366385.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD14 | NM_001366385.1 | c.35C>T | p.Thr12Met | missense_variant | Exon 5 of 24 | ENST00000648509.2 | NP_001353314.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152246Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000181 AC: 37AN: 204972Hom.: 0 AF XY: 0.000217 AC XY: 24AN XY: 110506
GnomAD4 exome AF: 0.000108 AC: 155AN: 1433950Hom.: 0 Cov.: 32 AF XY: 0.000114 AC XY: 81AN XY: 710728
GnomAD4 genome AF: 0.000118 AC: 18AN: 152364Hom.: 0 Cov.: 33 AF XY: 0.000174 AC XY: 13AN XY: 74502
ClinVar
Submissions by phenotype
Pityriasis rubra pilaris;C1864497:Psoriasis 2 Benign:1
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Autoinflammatory syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at