4-22736031-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000508166.5(GBA3):c.109C>T(p.His37Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000753 in 1,461,230 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000508166.5 missense
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 |
---|---|---|---|---|---|---|---|---|---|---|
GBA3 | ENST00000508166.5 | c.109C>T | p.His37Tyr | missense_variant | Exon 2 of 5 | 1 | ENSP00000427458.1 | |||
GBA3 | ENST00000503442.1 | c.109C>T | p.His37Tyr | missense_variant | Exon 2 of 3 | 1 | ENSP00000422220.1 | |||
GBA3 | ENST00000511446 | c.-405C>T | 5_prime_UTR_variant | Exon 2 of 5 | 2 | ENSP00000423754.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000322 AC: 8AN: 248714Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134908
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461230Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 726898
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.109C>T (p.H37Y) alteration is located in exon 2 (coding exon 2) of the GBA3 gene. This alteration results from a C to T substitution at nucleotide position 109, causing the histidine (H) at amino acid position 37 to be replaced by a tyrosine (Y). 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