17-76625871-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018414.5(ST6GALNAC1):c.1553G>A(p.Arg518His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000341 in 1,552,926 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018414.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152090Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000249 AC: 5AN: 201000Hom.: 0 AF XY: 0.0000187 AC XY: 2AN XY: 106674
GnomAD4 exome AF: 0.0000243 AC: 34AN: 1400836Hom.: 0 Cov.: 32 AF XY: 0.0000203 AC XY: 14AN XY: 690976
GnomAD4 genome AF: 0.000125 AC: 19AN: 152090Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1553G>A (p.R518H) alteration is located in exon 8 (coding exon 8) of the ST6GALNAC1 gene. This alteration results from a G to A substitution at nucleotide position 1553, causing the arginine (R) at amino acid position 518 to be replaced by a histidine (H). 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