chr16-89707880-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_004913.3(VPS9D1):c.1877G>A(p.Arg626Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000112 in 1,613,082 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_004913.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VPS9D1 | NM_004913.3 | c.1877G>A | p.Arg626Gln | missense_variant | 15/15 | ENST00000389386.8 | NP_004904.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
VPS9D1 | ENST00000389386.8 | c.1877G>A | p.Arg626Gln | missense_variant | 15/15 | 1 | NM_004913.3 | ENSP00000374037 | A2 | |
VPS9D1 | ENST00000561976.5 | c.1667G>A | p.Arg556Gln | missense_variant | 14/14 | 1 | ENSP00000454244 | P2 | ||
VPS9D1 | ENST00000565023.1 | c.680G>A | p.Arg227Gln | missense_variant | 6/6 | 5 | ENSP00000455792 |
Frequencies
GnomAD3 genomes AF: 0.000558 AC: 85AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000125 AC: 31AN: 247922Hom.: 0 AF XY: 0.0000815 AC XY: 11AN XY: 134942
GnomAD4 exome AF: 0.0000650 AC: 95AN: 1460770Hom.: 0 Cov.: 31 AF XY: 0.0000605 AC XY: 44AN XY: 726720
GnomAD4 genome AF: 0.000558 AC: 85AN: 152312Hom.: 0 Cov.: 33 AF XY: 0.000389 AC XY: 29AN XY: 74474
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | May 18, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at