rs777050595
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_018206.6(VPS35):c.2359G>T(p.Glu787Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,998 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_018206.6 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
VPS35 | NM_018206.6 | c.2359G>T | p.Glu787Ter | stop_gained | 17/17 | ENST00000299138.12 | |
VPS35 | XM_011523227.4 | c.2272G>T | p.Glu758Ter | stop_gained | 17/17 | ||
VPS35 | XM_005256045.4 | c.2158G>T | p.Glu720Ter | stop_gained | 15/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VPS35 | ENST00000299138.12 | c.2359G>T | p.Glu787Ter | stop_gained | 17/17 | 1 | NM_018206.6 | P1 | |
VPS35 | ENST00000568784.6 | c.*3029G>T | 3_prime_UTR_variant, NMD_transcript_variant | 17/17 | 1 | ||||
VPS35 | ENST00000647959.1 | c.*2422G>T | 3_prime_UTR_variant, NMD_transcript_variant | 18/18 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151998Hom.: 0 Cov.: 29
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151998Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 74216
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at