NM_004715.5:c.2274G>C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004715.5(CTDP1):āc.2274G>Cā(p.Pro758Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,266 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. Synonymous variant affecting the same amino acid position (i.e. P758P) has been classified as Likely benign.
Frequency
Consequence
NM_004715.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CTDP1 | ENST00000613122.5 | c.2274G>C | p.Pro758Pro | synonymous_variant | Exon 10 of 13 | 1 | NM_004715.5 | ENSP00000484525.2 | ||
CTDP1 | ENST00000075430.11 | c.2274G>C | p.Pro758Pro | synonymous_variant | Exon 10 of 12 | 1 | ENSP00000075430.7 | |||
CTDP1 | ENST00000591598.5 | c.2070G>C | p.Pro690Pro | synonymous_variant | Exon 10 of 12 | 1 | ENSP00000465119.1 | |||
CTDP1 | ENST00000299543.9 | c.894G>C | p.Pro298Pro | synonymous_variant | Exon 3 of 4 | 5 | ENSP00000299543.9 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250840Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135736
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461266Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 726976
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at