chr7-2906672-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6_ModerateBS1
The NM_032415.7(CARD11):c.3431G>A(p.Arg1144His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000192 in 1,613,970 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. R1144R) has been classified as Likely benign.
Frequency
Consequence
NM_032415.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD11 | NM_032415.7 | c.3431G>A | p.Arg1144His | missense_variant | Exon 25 of 25 | ENST00000396946.9 | NP_115791.3 | |
CARD11 | NM_001324281.3 | c.3431G>A | p.Arg1144His | missense_variant | Exon 26 of 26 | NP_001311210.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARD11 | ENST00000396946.9 | c.3431G>A | p.Arg1144His | missense_variant | Exon 25 of 25 | 1 | NM_032415.7 | ENSP00000380150.4 | ||
CARD11 | ENST00000698637.1 | n.4541G>A | non_coding_transcript_exon_variant | Exon 24 of 24 | ||||||
CARD11 | ENST00000698652.1 | n.2387G>A | non_coding_transcript_exon_variant | Exon 8 of 8 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152254Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250928Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135700
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461598Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 727124
GnomAD4 genome AF: 0.000112 AC: 17AN: 152372Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74512
ClinVar
Submissions by phenotype
Severe combined immunodeficiency due to CARD11 deficiency;C4551967:BENTA disease Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at