9-93113018-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_032310.5(CARD19):c.463C>A(p.Arg155Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000137 in 1,609,086 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032310.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD19 | NM_032310.5 | c.463C>A | p.Arg155Ser | missense_variant | Exon 6 of 6 | ENST00000375464.7 | NP_115686.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152106Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000787 AC: 19AN: 241408Hom.: 0 AF XY: 0.0000916 AC XY: 12AN XY: 130950
GnomAD4 exome AF: 0.000141 AC: 206AN: 1456980Hom.: 0 Cov.: 30 AF XY: 0.000127 AC XY: 92AN XY: 724260
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152106Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.463C>A (p.R155S) alteration is located in exon 6 (coding exon 6) of the CARD19 gene. This alteration results from a C to A substitution at nucleotide position 463, causing the arginine (R) at amino acid position 155 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at