15-40898981-T-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_020857.3(VPS18):c.308T>C(p.Met103Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000347 in 1,613,998 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020857.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VPS18 | NM_020857.3 | c.308T>C | p.Met103Thr | missense_variant | Exon 3 of 5 | ENST00000220509.10 | NP_065908.1 | |
VPS18 | XM_011521843.3 | c.92T>C | p.Met31Thr | missense_variant | Exon 2 of 4 | XP_011520145.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VPS18 | ENST00000220509.10 | c.308T>C | p.Met103Thr | missense_variant | Exon 3 of 5 | 1 | NM_020857.3 | ENSP00000220509.5 | ||
VPS18 | ENST00000558474.1 | c.308T>C | p.Met103Thr | missense_variant | Exon 3 of 4 | 3 | ENSP00000453555.1 | |||
VPS18 | ENST00000558855.5 | n.*69T>C | non_coding_transcript_exon_variant | Exon 4 of 5 | 5 | ENSP00000453265.1 | ||||
VPS18 | ENST00000558855.5 | n.*69T>C | 3_prime_UTR_variant | Exon 4 of 5 | 5 | ENSP00000453265.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152164Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000147 AC: 37AN: 251282Hom.: 1 AF XY: 0.000103 AC XY: 14AN XY: 135836
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461834Hom.: 1 Cov.: 32 AF XY: 0.0000316 AC XY: 23AN XY: 727206
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.308T>C (p.M103T) alteration is located in exon 3 (coding exon 3) of the VPS18 gene. This alteration results from a T to C substitution at nucleotide position 308, causing the methionine (M) at amino acid position 103 to be replaced by a threonine (T). 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