rs768244692

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_004913.3(VPS9D1):​c.1406G>T​(p.Arg469Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 31)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

VPS9D1
NM_004913.3 missense

Scores

6
13

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.798
Variant links:
Genes affected
VPS9D1 (HGNC:13526): (VPS9 domain containing 1) Enables identical protein binding activity. Predicted to be involved in ATP synthesis coupled proton transport. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
VPS9D1NM_004913.3 linkc.1406G>T p.Arg469Leu missense_variant Exon 12 of 15 ENST00000389386.8 NP_004904.2 Q9Y2B5-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
VPS9D1ENST00000389386.8 linkc.1406G>T p.Arg469Leu missense_variant Exon 12 of 15 1 NM_004913.3 ENSP00000374037.3 Q9Y2B5-1
VPS9D1ENST00000561976.5 linkc.1196G>T p.Arg399Leu missense_variant Exon 11 of 14 1 ENSP00000454244.1 H3BM58
VPS9D1ENST00000565023.1 linkc.206G>T p.Arg69Leu missense_variant Exon 3 of 6 5 ENSP00000455792.1 H3BQI2

Frequencies

GnomAD3 genomes
Cov.:
31
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
0.00
AC:
0
AN:
1364524
Hom.:
0
Cov.:
32
AF XY:
0.00
AC XY:
0
AN XY:
670428
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
0.37
BayesDel_addAF
Benign
-0.10
T
BayesDel_noAF
Benign
-0.38
CADD
Benign
19
DANN
Uncertain
1.0
DEOGEN2
Benign
0.20
.;T
Eigen
Benign
-0.13
Eigen_PC
Benign
-0.26
FATHMM_MKL
Benign
0.23
N
LIST_S2
Benign
0.83
T;T
M_CAP
Benign
0.037
D
MetaRNN
Uncertain
0.66
D;D
MetaSVM
Benign
-1.1
T
MutationAssessor
Uncertain
2.8
.;M
PrimateAI
Benign
0.43
T
PROVEAN
Uncertain
-3.2
D;D
REVEL
Benign
0.15
Sift
Benign
0.10
T;D
Sift4G
Uncertain
0.0050
D;D
Polyphen
0.91
.;P
Vest4
0.72
MutPred
0.46
.;Loss of disorder (P = 0.05);
MVP
0.44
MPC
0.24
ClinPred
0.81
D
GERP RS
2.1
Varity_R
0.18
gMVP
0.59

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.010
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs768244692; hg19: chr16-89775826; COSMIC: COSV66995465; COSMIC: COSV66995465; API