17-49702980-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_005827.4(SLC35B1):c.794G>T(p.Gly265Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,648 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005827.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151762Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251484Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135910
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461886Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727240
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151762Hom.: 0 Cov.: 31 AF XY: 0.0000405 AC XY: 3AN XY: 74108
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.794G>T (p.G265V) alteration is located in exon 8 (coding exon 8) of the SLC35B1 gene. This alteration results from a G to T substitution at nucleotide position 794, causing the glycine (G) at amino acid position 265 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at