17-76627128-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_018414.5(ST6GALNAC1):c.1111G>A(p.Gly371Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000538 in 1,597,686 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_018414.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152158Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000590 AC: 14AN: 237406Hom.: 0 AF XY: 0.0000624 AC XY: 8AN XY: 128224
GnomAD4 exome AF: 0.0000526 AC: 76AN: 1445528Hom.: 0 Cov.: 33 AF XY: 0.0000529 AC XY: 38AN XY: 717994
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152158Hom.: 0 Cov.: 31 AF XY: 0.0000942 AC XY: 7AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1111G>A (p.G371R) alteration is located in exon 4 (coding exon 4) of the ST6GALNAC1 gene. This alteration results from a G to A substitution at nucleotide position 1111, causing the glycine (G) at amino acid position 371 to be replaced by an arginine (R). 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