rs1864115943
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_052889.4(CARD16):c.*61G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,504 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.
Frequency
Consequence
NM_052889.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARD16 | ENST00000673097 | c.*61G>T | 3_prime_UTR_variant | Exon 4 of 4 | NM_052889.4 | ENSP00000509408.1 | ||||
CARD16 | ENST00000672037.1 | c.292G>T | p.Asp98Tyr | missense_variant | Exon 3 of 3 | ENSP00000509530.1 | ||||
CARD16 | ENST00000528513.1 | c.244G>T | p.Asp82Tyr | missense_variant | Exon 3 of 3 | 3 | ENSP00000510629.1 | |||
CARD16 | ENST00000525374.1 | n.372G>T | non_coding_transcript_exon_variant | Exon 4 of 4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461504Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727046
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.