rs193920783
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001906.6(CTRB1):c.633C>A(p.Gly211Gly) variant causes a splice region, synonymous 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. 1/1 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
NM_001906.6 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CTRB1 | NM_001906.6 | c.633C>A | p.Gly211Gly | splice_region_variant, synonymous_variant | 7/7 | ENST00000361017.9 | NP_001897.4 | |
CTRB1 | NM_001329190.2 | c.499C>A | p.Arg167Arg | splice_region_variant, synonymous_variant | 6/6 | NP_001316119.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CTRB1 | ENST00000361017.9 | c.633C>A | p.Gly211Gly | splice_region_variant, synonymous_variant | 7/7 | 1 | NM_001906.6 | ENSP00000354294.4 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at