chr20-2860109-C-G
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Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_022575.4(VPS16):āc.198C>Gā(p.Leu66=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,782 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Genomes: not found (cov: 32)
Exomes š: 0.0000021 ( 0 hom. )
Consequence
VPS16
NM_022575.4 synonymous
NM_022575.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -3.80
Genes affected
VPS16 (HGNC:14584): (VPS16 core subunit of CORVET and HOPS complexes) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -5 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
Variant 20-2860109-C-G is Benign according to our data. Variant chr20-2860109-C-G is described in ClinVar as [Likely_benign]. Clinvar id is 2652156.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-3.8 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VPS16 | NM_022575.4 | c.198C>G | p.Leu66= | synonymous_variant | 3/24 | ENST00000380445.8 | NP_072097.2 | |
VPS16 | NM_080413.3 | c.198C>G | p.Leu66= | synonymous_variant | 3/20 | NP_536338.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VPS16 | ENST00000380445.8 | c.198C>G | p.Leu66= | synonymous_variant | 3/24 | 1 | NM_022575.4 | ENSP00000369810 | P1 | |
VPS16 | ENST00000380469.7 | c.198C>G | p.Leu66= | synonymous_variant | 3/20 | 2 | ENSP00000369836 | |||
VPS16 | ENST00000417508.1 | c.15+302C>G | intron_variant | 5 | ENSP00000409840 | |||||
VPS16 | ENST00000453689.5 | c.15+302C>G | intron_variant | 3 | ENSP00000417031 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 genomes
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GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251276Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135806
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GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461782Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727178
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GnomAD4 genome Cov.: 32
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2023 | VPS16: BP4, BP7 - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at