rs587778150
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The ENST00000396946.9(CARD11):c.1823G>C(p.Arg608Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R608C) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000396946.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD11 | NM_032415.7 | c.1823G>C | p.Arg608Pro | missense_variant | 15/25 | ENST00000396946.9 | NP_115791.3 | |
CARD11 | NM_001324281.3 | c.1823G>C | p.Arg608Pro | missense_variant | 16/26 | NP_001311210.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARD11 | ENST00000396946.9 | c.1823G>C | p.Arg608Pro | missense_variant | 15/25 | 1 | NM_032415.7 | ENSP00000380150 | P1 | |
CARD11 | ENST00000355508.3 | c.236G>C | p.Arg79Pro | missense_variant | 4/7 | 3 | ENSP00000347695 | |||
CARD11 | ENST00000698637.1 | n.2149G>C | non_coding_transcript_exon_variant | 15/24 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.