11-105041702-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_052889.4(CARD16):c.*61G>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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>C | 3_prime_UTR_variant | Exon 4 of 4 | NM_052889.4 | ENSP00000509408.1 | ||||
CARD16 | ENST00000672037.1 | c.292G>C | p.Asp98His | missense_variant | Exon 3 of 3 | ENSP00000509530.1 | ||||
CARD16 | ENST00000528513.1 | c.244G>C | p.Asp82His | missense_variant | Exon 3 of 3 | 3 | ENSP00000510629.1 | |||
CARD16 | ENST00000525374.1 | n.372G>C | non_coding_transcript_exon_variant | Exon 4 of 4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.292G>C (p.D98H) alteration is located in exon 3 (coding exon 3) of the CARD16 gene. This alteration results from a G to C substitution at nucleotide position 292, causing the aspartic acid (D) at amino acid position 98 to be replaced by a histidine (H). 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