rs8078650
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033133.5(CNP):c.676+13T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000208 in 1,445,364 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_033133.5 intron
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNP | NM_033133.5 | c.676+13T>A | intron_variant | Intron 2 of 3 | ENST00000393892.8 | NP_149124.3 | ||
CNP | NM_001330216.2 | c.616+13T>A | intron_variant | Intron 2 of 3 | NP_001317145.1 | |||
CNP | XM_011524340.3 | c.616+13T>A | intron_variant | Intron 2 of 3 | XP_011522642.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000208 AC: 3AN: 1445364Hom.: 0 Cov.: 32 AF XY: 0.00000418 AC XY: 3AN XY: 717208
GnomAD4 genome Cov.: 32
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.