rs150424747
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BS1BS2_Supporting
The NM_001366385.1(CARD14):c.828G>A(p.Ser276=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000193 in 1,517,318 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. S276S) has been classified as Likely benign.
Frequency
Consequence
NM_001366385.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CARD14 | NM_001366385.1 | c.828G>A | p.Ser276= | synonymous_variant | 8/24 | ENST00000648509.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CARD14 | ENST00000648509.2 | c.828G>A | p.Ser276= | synonymous_variant | 8/24 | NM_001366385.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152246Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000510 AC: 9AN: 176478Hom.: 0 AF XY: 0.0000424 AC XY: 4AN XY: 94354
GnomAD4 exome AF: 0.000210 AC: 286AN: 1365072Hom.: 1 Cov.: 31 AF XY: 0.000192 AC XY: 129AN XY: 671660
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152246Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74376
ClinVar
Submissions by phenotype
Autoinflammatory syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genome Diagnostics Laboratory, The Hospital for Sick Children | Sep 28, 2020 | - - |
Pityriasis rubra pilaris;C1864497:Psoriasis 2 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 02, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at