chr17-80198512-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001366385.1(CARD14):c.1772C>T(p.Thr591Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000242 in 1,613,238 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. T591T) has been classified as Likely benign.
Frequency
Consequence
NM_001366385.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD14 | NM_001366385.1 | c.1772C>T | p.Thr591Met | missense_variant | Exon 16 of 24 | ENST00000648509.2 | NP_001353314.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000453 AC: 69AN: 152254Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000671 AC: 168AN: 250206Hom.: 0 AF XY: 0.000539 AC XY: 73AN XY: 135524
GnomAD4 exome AF: 0.000220 AC: 321AN: 1460866Hom.: 0 Cov.: 32 AF XY: 0.000212 AC XY: 154AN XY: 726760
GnomAD4 genome AF: 0.000453 AC: 69AN: 152372Hom.: 0 Cov.: 32 AF XY: 0.000510 AC XY: 38AN XY: 74512
ClinVar
Submissions by phenotype
Pityriasis rubra pilaris;C1864497:Psoriasis 2 Benign:2
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Pityriasis rubra pilaris Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at