rs773107808
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001902.6(CTH):c.793C>A(p.Arg265=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,804 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_001902.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CTH | NM_001902.6 | c.793C>A | p.Arg265= | synonymous_variant | 8/12 | ENST00000370938.8 | |
CTH | NM_001190463.2 | c.697C>A | p.Arg233= | synonymous_variant | 7/11 | ||
CTH | NM_153742.5 | c.661C>A | p.Arg221= | synonymous_variant | 7/11 | ||
CTH | XM_017000416.3 | c.223C>A | p.Arg75= | synonymous_variant | 5/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CTH | ENST00000370938.8 | c.793C>A | p.Arg265= | synonymous_variant | 8/12 | 1 | NM_001902.6 | P1 | |
CTH | ENST00000346806.2 | c.661C>A | p.Arg221= | synonymous_variant | 7/11 | 1 | |||
CTH | ENST00000411986.6 | c.697C>A | p.Arg233= | synonymous_variant | 7/11 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251232Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135768
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461804Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727212
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at