chr7-2906704-G-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_ModerateBP6_ModerateBP7BA1
The NM_032415.7(CARD11):c.3399C>T(p.Arg1133=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0017 in 1,613,998 control chromosomes in the GnomAD database, including 75 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. R1133R) has been classified as Likely benign.
Frequency
Consequence
NM_032415.7 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CARD11 | NM_032415.7 | c.3399C>T | p.Arg1133= | synonymous_variant | 25/25 | ENST00000396946.9 | |
CARD11 | NM_001324281.3 | c.3399C>T | p.Arg1133= | synonymous_variant | 26/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CARD11 | ENST00000396946.9 | c.3399C>T | p.Arg1133= | synonymous_variant | 25/25 | 1 | NM_032415.7 | P1 | |
CARD11 | ENST00000698637.1 | n.4509C>T | non_coding_transcript_exon_variant | 24/24 | |||||
CARD11 | ENST00000698652.1 | n.2355C>T | non_coding_transcript_exon_variant | 8/8 |
Frequencies
GnomAD3 genomes ? AF: 0.00199 AC: 303AN: 152242Hom.: 12 Cov.: 33
GnomAD3 exomes AF: 0.00452 AC: 1136AN: 251208Hom.: 29 AF XY: 0.00402 AC XY: 546AN XY: 135854
GnomAD4 exome AF: 0.00167 AC: 2440AN: 1461638Hom.: 63 Cov.: 30 AF XY: 0.00160 AC XY: 1160AN XY: 727134
GnomAD4 genome ? AF: 0.00197 AC: 300AN: 152360Hom.: 12 Cov.: 33 AF XY: 0.00220 AC XY: 164AN XY: 74504
ClinVar
Submissions by phenotype
Severe combined immunodeficiency due to CARD11 deficiency;C4551967:BENTA disease Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at