rs58156069
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000380950.7(CEP152):c.833-4G>T variant causes a splice region, splice polypyrimidine tract, intron 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. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000380950.7 splice_region, splice_polypyrimidine_tract, 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CEP152 | NM_001194998.2 | c.833-4G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000380950.7 | NP_001181927.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CEP152 | ENST00000380950.7 | c.833-4G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001194998.2 | ENSP00000370337 | A2 | |||
CEP152 | ENST00000325747.9 | c.554-4G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | ENSP00000321000 | A2 | ||||
CEP152 | ENST00000399334.7 | c.833-4G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | ENSP00000382271 | P2 | ||||
CEP152 | ENST00000560322.5 | c.833-4G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | ENSP00000453440 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 31
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.