11-105041443-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000672037.1(CARD16):c.551G>A(p.Gly184Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000564 in 1,613,446 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000672037.1 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 | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CARD16 | ENST00000672037.1 | c.551G>A | p.Gly184Asp | missense_variant | 3/3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000342 AC: 52AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000124 AC: 31AN: 250764Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135506
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461312Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 726964
GnomAD4 genome ? AF: 0.000342 AC: 52AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.000538 AC XY: 40AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 06, 2022 | The c.551G>A (p.G184D) alteration is located in exon 3 (coding exon 3) of the CARD16 gene. This alteration results from a G to A substitution at nucleotide position 551, causing the glycine (G) at amino acid position 184 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at