12-4739284-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017417.2(GALNT8):c.631C>T(p.Arg211*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,613,548 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_017417.2 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GALNT8 | ENST00000252318.7 | c.631C>T | p.Arg211* | stop_gained | Exon 3 of 11 | 1 | NM_017417.2 | ENSP00000252318.2 | ||
ENSG00000255639 | ENST00000648836.1 | c.964-21674C>T | intron_variant | Intron 10 of 14 | ENSP00000497305.1 | |||||
ENSG00000255639 | ENST00000544741.2 | n.*408C>T | non_coding_transcript_exon_variant | Exon 5 of 6 | 3 | ENSP00000456318.2 | ||||
ENSG00000255639 | ENST00000544741.2 | n.*408C>T | 3_prime_UTR_variant | Exon 5 of 6 | 3 | ENSP00000456318.2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152034Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251162Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135726
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461514Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 727086
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152034Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74258
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at