chr7-2912177-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_032415.7(CARD11):c.3139G>T(p.Ala1047Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,672 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
Genome browser will be placed here
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.3139G>T | p.Ala1047Ser | missense_variant | 23/25 | ENST00000396946.9 | NP_115791.3 | |
CARD11 | NM_001324281.3 | c.3139G>T | p.Ala1047Ser | missense_variant | 24/26 | NP_001311210.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARD11 | ENST00000396946.9 | c.3139G>T | p.Ala1047Ser | missense_variant | 23/25 | 1 | NM_032415.7 | ENSP00000380150 | P1 | |
CARD11 | ENST00000698637.1 | n.4249G>T | non_coding_transcript_exon_variant | 22/24 | ||||||
CARD11 | ENST00000698652.1 | n.2095G>T | non_coding_transcript_exon_variant | 6/8 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250726Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135784
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461672Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727138
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at