chr4-22747603-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000508166.5(GBA3):c.594T>G(p.Ile198Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000452 in 1,613,894 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 6/9 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000508166.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GBA3 | NR_102355.2 | n.673T>G | non_coding_transcript_exon_variant | 3/5 | |||
GBA3 | NR_102357.2 | n.595T>G | non_coding_transcript_exon_variant | 3/5 | |||
GBA3 | NR_102356.2 | n.365+11395T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GBA3 | ENST00000508166.5 | c.594T>G | p.Ile198Met | missense_variant | 3/5 | 1 | P5 | ||
GBA3 | ENST00000503442.1 | c.286+11395T>G | intron_variant | 1 | A2 | ||||
GBA3 | ENST00000511446.2 | c.81T>G | p.Ile27Met | missense_variant | 3/5 | 2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249086Hom.: 0 AF XY: 0.0000592 AC XY: 8AN XY: 135134
GnomAD4 exome AF: 0.0000486 AC: 71AN: 1461686Hom.: 0 Cov.: 31 AF XY: 0.0000481 AC XY: 35AN XY: 727120
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 15, 2021 | The c.594T>G (p.I198M) alteration is located in exon 3 (coding exon 3) of the GBA3 gene. This alteration results from a T to G substitution at nucleotide position 594, causing the isoleucine (I) at amino acid position 198 to be replaced by a methionine (M). 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