chr15-42162130-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_015289.5(VPS39):c.2362G>A(p.Asp788Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000267 in 1,614,046 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 Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D788H) has been classified as Uncertain significance.
Frequency
Consequence
NM_015289.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
VPS39 | NM_015289.5 | c.2362G>A | p.Asp788Asn | missense_variant | 23/25 | ENST00000318006.10 | |
VPS39 | NM_001301138.3 | c.2395G>A | p.Asp799Asn | missense_variant | 24/26 | ||
VPS39 | XM_011521403.3 | c.2395G>A | p.Asp799Asn | missense_variant | 24/26 | ||
VPS39 | XM_011521404.3 | c.2362G>A | p.Asp788Asn | missense_variant | 23/25 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
VPS39 | ENST00000318006.10 | c.2362G>A | p.Asp788Asn | missense_variant | 23/25 | 1 | NM_015289.5 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152156Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000994 AC: 25AN: 251448Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135894
GnomAD4 exome AF: 0.000282 AC: 412AN: 1461890Hom.: 0 Cov.: 32 AF XY: 0.000246 AC XY: 179AN XY: 727244
GnomAD4 genome AF: 0.000125 AC: 19AN: 152156Hom.: 0 Cov.: 33 AF XY: 0.0000673 AC XY: 5AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2021 | The c.2362G>A (p.D788N) alteration is located in exon 23 (coding exon 23) of the VPS39 gene. This alteration results from a G to A substitution at nucleotide position 2362, causing the aspartic acid (D) at amino acid position 788 to be replaced by an asparagine (N). 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