rs368714967
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_032415.7(CARD11):c.1101G>T(p.Thr367=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,686 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. Synonymous variant affecting the same amino acid position (i.e. T367T) has been classified as Likely benign.
Frequency
Consequence
NM_032415.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CARD11 | NM_032415.7 | c.1101G>T | p.Thr367= | synonymous_variant | 8/25 | ENST00000396946.9 | |
CARD11 | NM_001324281.3 | c.1101G>T | p.Thr367= | synonymous_variant | 9/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CARD11 | ENST00000396946.9 | c.1101G>T | p.Thr367= | synonymous_variant | 8/25 | 1 | NM_032415.7 | P1 | |
CARD11 | ENST00000698637.1 | n.1427G>T | non_coding_transcript_exon_variant | 8/24 | |||||
CARD11 | ENST00000698654.1 | n.1360G>T | non_coding_transcript_exon_variant | 8/10 | |||||
CARD11 | ENST00000698662.1 | n.1301G>T | non_coding_transcript_exon_variant | 8/10 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461686Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727152
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at