9-136364317-G-A
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_052813.5(CARD9):c.1596C>T(p.Asp532Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000318 in 1,560,296 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_052813.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD9 | NM_052813.5 | c.1596C>T | p.Asp532Asp | synonymous_variant | Exon 13 of 13 | ENST00000371732.10 | NP_434700.2 | |
CARD9 | NM_052814.4 | c.1442-155C>T | intron_variant | Intron 12 of 12 | NP_434701.1 | |||
LOC124902309 | XR_007061863.1 | n.84+865G>A | intron_variant | Intron 1 of 1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARD9 | ENST00000371732.10 | c.1596C>T | p.Asp532Asp | synonymous_variant | Exon 13 of 13 | 1 | NM_052813.5 | ENSP00000360797.5 | ||
ENSG00000289701 | ENST00000696169.1 | n.*1224C>T | non_coding_transcript_exon_variant | Exon 12 of 13 | ENSP00000512460.1 | |||||
ENSG00000289701 | ENST00000696169.1 | n.*1224C>T | 3_prime_UTR_variant | Exon 12 of 13 | ENSP00000512460.1 |
Frequencies
GnomAD3 genomes AF: 0.00170 AC: 259AN: 152206Hom.: 2 Cov.: 34
GnomAD3 exomes AF: 0.000529 AC: 89AN: 168280Hom.: 2 AF XY: 0.000402 AC XY: 36AN XY: 89650
GnomAD4 exome AF: 0.000168 AC: 236AN: 1407972Hom.: 3 Cov.: 32 AF XY: 0.000155 AC XY: 108AN XY: 695684
GnomAD4 genome AF: 0.00171 AC: 260AN: 152324Hom.: 2 Cov.: 34 AF XY: 0.00149 AC XY: 111AN XY: 74486
ClinVar
Submissions by phenotype
CARD9-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Predisposition to invasive fungal disease due to CARD9 deficiency Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at