12-4720757-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_017417.2(GALNT8):c.80T>C(p.Phe27Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017417.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GALNT8 | ENST00000252318.7 | c.80T>C | p.Phe27Ser | missense_variant | Exon 1 of 11 | 1 | NM_017417.2 | ENSP00000252318.2 | ||
ENSG00000255639 | ENST00000648836.1 | c.963+35432T>C | intron_variant | Intron 10 of 14 | ENSP00000497305.1 | |||||
ENSG00000255639 | ENST00000543979.1 | n.590-5775T>C | intron_variant | Intron 5 of 5 | 2 | |||||
ENSG00000255639 | ENST00000544741.2 | n.241-5775T>C | intron_variant | Intron 3 of 5 | 3 | ENSP00000456318.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.80T>C (p.F27S) alteration is located in exon 1 (coding exon 1) of the GALNT8 gene. This alteration results from a T to C substitution at nucleotide position 80, causing the phenylalanine (F) at amino acid position 27 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.