6-87472981-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006416.5(SLC35A1):c.-23C>G variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,196 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006416.5 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SLC35A1 | ENST00000369552 | c.-23C>G | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 8 | 1 | NM_006416.5 | ENSP00000358565.4 | |||
SLC35A1 | ENST00000369552 | c.-23C>G | 5_prime_UTR_variant | Exon 1 of 8 | 1 | NM_006416.5 | ENSP00000358565.4 | |||
ENSG00000213204 | ENST00000507897.5 | n.*61-4381C>G | intron_variant | Intron 13 of 15 | 2 | ENSP00000426769.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 34
GnomAD4 exome Cov.: 6
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74334
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at