rs145006535
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006416.5(SLC35A1):c.133A>C(p.Thr45Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,614,110 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. T45A) has been classified as Likely benign.
Frequency
Consequence
NM_006416.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC35A1 | NM_006416.5 | c.133A>C | p.Thr45Pro | missense_variant | 2/8 | ENST00000369552.9 | |
SLC35A1 | NM_001168398.2 | c.133A>C | p.Thr45Pro | missense_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC35A1 | ENST00000369552.9 | c.133A>C | p.Thr45Pro | missense_variant | 2/8 | 1 | NM_006416.5 | P1 | |
SLC35A1 | ENST00000369556.7 | c.133A>C | p.Thr45Pro | missense_variant | 2/7 | 1 | |||
SLC35A1 | ENST00000369557.9 | c.133A>C | p.Thr45Pro | missense_variant | 2/6 | 2 | |||
SLC35A1 | ENST00000464978.5 | n.208A>C | non_coding_transcript_exon_variant | 2/7 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251454Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135904
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461816Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727212
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74472
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at