rs17855830
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004715.5(CTDP1):c.181T>A(p.Ser61Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000236 in 1,273,816 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S61A) has been classified as Benign.
Frequency
Consequence
NM_004715.5 missense
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 | UniProt |
---|---|---|---|---|---|---|---|
CTDP1 | NM_004715.5 | c.181T>A | p.Ser61Thr | missense_variant | 1/13 | ENST00000613122.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CTDP1 | ENST00000613122.5 | c.181T>A | p.Ser61Thr | missense_variant | 1/13 | 1 | NM_004715.5 | P1 | |
CTDP1 | ENST00000075430.11 | c.181T>A | p.Ser61Thr | missense_variant | 1/12 | 1 | |||
CTDP1 | ENST00000591598.5 | upstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 0.00000236 AC: 3AN: 1273816Hom.: 0 Cov.: 57 AF XY: 0.00000160 AC XY: 1AN XY: 626788
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at