rs751828447
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP3_Strong
The NM_018389.5(SLC35C1):āc.872C>Gā(p.Thr291Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,262 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. T291I) has been classified as Likely pathogenic.
Frequency
Consequence
NM_018389.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC35C1 | NM_018389.5 | c.872C>G | p.Thr291Ser | missense_variant | 2/2 | ENST00000314134.4 | |
SLC35C1 | NM_001145265.2 | c.833C>G | p.Thr278Ser | missense_variant | 3/3 | ||
SLC35C1 | NM_001145266.1 | c.833C>G | p.Thr278Ser | missense_variant | 3/3 | ||
SLC35C1 | XM_011520202.3 | c.365C>G | p.Thr122Ser | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC35C1 | ENST00000314134.4 | c.872C>G | p.Thr291Ser | missense_variant | 2/2 | 1 | NM_018389.5 | P4 | |
SLC35C1 | ENST00000442528.2 | c.833C>G | p.Thr278Ser | missense_variant | 3/3 | 1 | A1 | ||
SLC35C1 | ENST00000526817.2 | c.833C>G | p.Thr278Ser | missense_variant | 3/3 | 2 | A1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152262Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 36
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152262Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at