NM_017417.2:c.410A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017417.2(GALNT8):āc.410A>Gā(p.Gln137Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000146 in 1,614,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_017417.2 missense
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 |
---|---|---|---|---|---|---|---|---|---|---|
GALNT8 | ENST00000252318.7 | c.410A>G | p.Gln137Arg | missense_variant | Exon 2 of 11 | 1 | NM_017417.2 | ENSP00000252318.2 | ||
ENSG00000255639 | ENST00000648836.1 | c.964-34228A>G | intron_variant | Intron 10 of 14 | ENSP00000497305.1 |
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152156Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251370Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135866
GnomAD4 exome AF: 0.000144 AC: 211AN: 1461832Hom.: 0 Cov.: 33 AF XY: 0.000142 AC XY: 103AN XY: 727226
GnomAD4 genome AF: 0.000158 AC: 24AN: 152274Hom.: 0 Cov.: 31 AF XY: 0.000175 AC XY: 13AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.410A>G (p.Q137R) alteration is located in exon 2 (coding exon 2) of the GALNT8 gene. This alteration results from a A to G substitution at nucleotide position 410, causing the glutamine (Q) at amino acid position 137 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