6-87477440-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006416.5(SLC35A1):c.95G>A(p.Arg32Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000992 in 1,613,680 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 (no stars).
Frequency
Consequence
NM_006416.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC35A1 | ENST00000369552.9 | c.95G>A | p.Arg32Lys | missense_variant | Exon 2 of 8 | 1 | NM_006416.5 | ENSP00000358565.4 | ||
ENSG00000213204 | ENST00000507897.5 | n.*139G>A | non_coding_transcript_exon_variant | Exon 14 of 16 | 2 | ENSP00000426769.1 | ||||
ENSG00000213204 | ENST00000507897.5 | n.*139G>A | 3_prime_UTR_variant | Exon 14 of 16 | 2 | ENSP00000426769.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251426Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135894
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461566Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727094
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74298
ClinVar
Submissions by phenotype
SLC35A1-related disorder Uncertain:1
The SLC35A1 c.95G>A variant is predicted to result in the amino acid substitution p.Arg32Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at