9-136371345-G-A
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PM5PP3_Moderate
The NM_052813.5(CARD9):c.301C>T(p.Arg101Cys) 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 pathogenic outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R101H) has been classified as Uncertain significance.
Frequency
Consequence
NM_052813.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CARD9 | NM_052813.5 | c.301C>T | p.Arg101Cys | missense_variant | 3/13 | ENST00000371732.10 | |
CARD9 | NM_052814.4 | c.301C>T | p.Arg101Cys | missense_variant | 3/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CARD9 | ENST00000371732.10 | c.301C>T | p.Arg101Cys | missense_variant | 3/13 | 1 | NM_052813.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1450808Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 720788
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
Predisposition to invasive fungal disease due to CARD9 deficiency Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Oct 31, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at