rs1135314
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_052813.5(CARD9):c.*292T>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000262 in 1,146,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_052813.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD9 | NM_052813.5 | c.*292T>G | 3_prime_UTR_variant | Exon 13 of 13 | ENST00000371732.10 | NP_434700.2 | ||
CARD9 | NM_052814.4 | c.*115T>G | 3_prime_UTR_variant | Exon 13 of 13 | NP_434701.1 | |||
LOC124902309 | XR_007061863.1 | n.84+558A>C | intron_variant | Intron 1 of 1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARD9 | ENST00000371732 | c.*292T>G | 3_prime_UTR_variant | Exon 13 of 13 | 1 | NM_052813.5 | ENSP00000360797.5 | |||
ENSG00000289701 | ENST00000696169.1 | n.*1531T>G | non_coding_transcript_exon_variant | Exon 12 of 13 | ENSP00000512460.1 | |||||
ENSG00000289701 | ENST00000696169.1 | n.*1531T>G | 3_prime_UTR_variant | Exon 12 of 13 | ENSP00000512460.1 |
Frequencies
GnomAD3 genomes Cov.: 35
GnomAD4 exome AF: 0.00000262 AC: 3AN: 1146018Hom.: 0 Cov.: 16 AF XY: 0.00000347 AC XY: 2AN XY: 576432
GnomAD4 genome Cov.: 35
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.