chr4-22747811-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000508166.5(GBA3):c.802G>C(p.Val268Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,674 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 7/9 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
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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.881G>C | non_coding_transcript_exon_variant | 3/5 | |||
GBA3 | NR_102357.2 | n.803G>C | non_coding_transcript_exon_variant | 3/5 | |||
GBA3 | NR_102356.2 | n.365+11603G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GBA3 | ENST00000508166.5 | c.802G>C | p.Val268Leu | missense_variant | 3/5 | 1 | P5 | ||
GBA3 | ENST00000503442.1 | c.286+11603G>C | intron_variant | 1 | A2 | ||||
GBA3 | ENST00000511446.2 | c.289G>C | p.Val97Leu | missense_variant | 3/5 | 2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461674Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727114
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 28, 2023 | The c.802G>C (p.V268L) alteration is located in exon 3 (coding exon 3) of the GBA3 gene. This alteration results from a G to C substitution at nucleotide position 802, causing the valine (V) at amino acid position 268 to be replaced by a leucine (L). 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