7-2912257-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032415.7(CARD11):āc.3059C>Gā(p.Thr1020Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,674 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032415.7 missense
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD11 | NM_032415.7 | c.3059C>G | p.Thr1020Arg | missense_variant | 23/25 | ENST00000396946.9 | NP_115791.3 | |
CARD11 | NM_001324281.3 | c.3059C>G | p.Thr1020Arg | missense_variant | 24/26 | NP_001311210.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARD11 | ENST00000396946.9 | c.3059C>G | p.Thr1020Arg | missense_variant | 23/25 | 1 | NM_032415.7 | ENSP00000380150.4 | ||
CARD11 | ENST00000698637.1 | n.4169C>G | non_coding_transcript_exon_variant | 22/24 | ||||||
CARD11 | ENST00000698652.1 | n.2015C>G | non_coding_transcript_exon_variant | 6/8 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461674Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727122
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.