9-93113034-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032310.5(CARD19):c.479C>T(p.Ser160Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,609,090 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD19 | NM_032310.5 | c.479C>T | p.Ser160Leu | missense_variant | Exon 6 of 6 | ENST00000375464.7 | NP_115686.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152124Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000249 AC: 6AN: 240980Hom.: 0 AF XY: 0.0000383 AC XY: 5AN XY: 130658
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1456966Hom.: 0 Cov.: 30 AF XY: 0.00000967 AC XY: 7AN XY: 724222
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152124Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.479C>T (p.S160L) alteration is located in exon 6 (coding exon 6) of the CARD19 gene. This alteration results from a C to T substitution at nucleotide position 479, causing the serine (S) at amino acid position 160 to be replaced by a leucine (L). 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