9-133154013-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_021996.6(GBGT1):āc.608T>Cā(p.Phe203Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,613,902 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 (ā ).
Frequency
Consequence
NM_021996.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GBGT1 | ENST00000372040.9 | c.608T>C | p.Phe203Ser | missense_variant | Exon 7 of 7 | 1 | NM_021996.6 | ENSP00000361110.3 | ||
ENSG00000285245 | ENST00000647146.1 | c.396+1165T>C | intron_variant | Intron 6 of 22 | ENSP00000493691.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251132Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135856
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461576Hom.: 0 Cov.: 32 AF XY: 0.0000303 AC XY: 22AN XY: 727078
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152326Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74484
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.608T>C (p.F203S) alteration is located in exon 7 (coding exon 6) of the GBGT1 gene. This alteration results from a T to C substitution at nucleotide position 608, causing the phenylalanine (F) at amino acid position 203 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