9-133153620-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021996.6(GBGT1):c.1001G>A(p.Arg334His) variant causes a missense change. The variant allele was found at a frequency of 0.000119 in 1,589,662 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021996.6 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 |
---|---|---|---|---|---|---|---|---|---|---|
GBGT1 | ENST00000372040.9 | c.1001G>A | p.Arg334His | missense_variant | Exon 7 of 7 | 1 | NM_021996.6 | ENSP00000361110.3 | ||
ENSG00000285245 | ENST00000647146.1 | c.396+1558G>A | intron_variant | Intron 6 of 22 | ENSP00000493691.1 |
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000288 AC: 67AN: 232566Hom.: 0 AF XY: 0.000311 AC XY: 39AN XY: 125360
GnomAD4 exome AF: 0.000109 AC: 157AN: 1437346Hom.: 1 Cov.: 31 AF XY: 0.000107 AC XY: 76AN XY: 712782
GnomAD4 genome AF: 0.000210 AC: 32AN: 152316Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1001G>A (p.R334H) alteration is located in exon 7 (coding exon 6) of the GBGT1 gene. This alteration results from a G to A substitution at nucleotide position 1001, causing the arginine (R) at amino acid position 334 to be replaced by a histidine (H). 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