rs13338499

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NR_184227.1(ATP6V0D1-DT):​n.345+1892A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.266 in 140,432 control chromosomes in the GnomAD database, including 8,619 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.27 ( 8619 hom., cov: 27)

Consequence

ATP6V0D1-DT
NR_184227.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.792
Variant links:
Genes affected
ATP6V0D1-DT (HGNC:55268): (ATP6V0D1 divergent transcript)

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.04).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.626 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
ATP6V0D1-DTNR_184227.1 linkuse as main transcriptn.345+1892A>G intron_variant, non_coding_transcript_variant
ATP6V0D1-DTNR_184225.1 linkuse as main transcriptn.345+1892A>G intron_variant, non_coding_transcript_variant
ATP6V0D1-DTNR_184226.1 linkuse as main transcriptn.345+1892A>G intron_variant, non_coding_transcript_variant
ATP6V0D1-DTNR_184228.1 linkuse as main transcriptn.549+1688A>G intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ATP6V0D1-DTENST00000656196.1 linkuse as main transcriptn.425+1892A>G intron_variant, non_coding_transcript_variant
ATP6V0D1-DTENST00000602476.1 linkuse as main transcriptn.88-594A>G intron_variant, non_coding_transcript_variant 3
ATP6V0D1-DTENST00000635000.1 linkuse as main transcriptn.332+1892A>G intron_variant, non_coding_transcript_variant 5
ATP6V0D1-DTENST00000659360.1 linkuse as main transcriptn.366+1892A>G intron_variant, non_coding_transcript_variant

Frequencies

GnomAD3 genomes
AF:
0.265
AC:
37250
AN:
140344
Hom.:
8586
Cov.:
27
show subpopulations
Gnomad AFR
AF:
0.632
Gnomad AMI
AF:
0.130
Gnomad AMR
AF:
0.140
Gnomad ASJ
AF:
0.0864
Gnomad EAS
AF:
0.0160
Gnomad SAS
AF:
0.184
Gnomad FIN
AF:
0.171
Gnomad MID
AF:
0.314
Gnomad NFE
AF:
0.113
Gnomad OTH
AF:
0.223
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.266
AC:
37327
AN:
140432
Hom.:
8619
Cov.:
27
AF XY:
0.264
AC XY:
18045
AN XY:
68454
show subpopulations
Gnomad4 AFR
AF:
0.633
Gnomad4 AMR
AF:
0.140
Gnomad4 ASJ
AF:
0.0864
Gnomad4 EAS
AF:
0.0163
Gnomad4 SAS
AF:
0.184
Gnomad4 FIN
AF:
0.171
Gnomad4 NFE
AF:
0.113
Gnomad4 OTH
AF:
0.223
Alfa
AF:
0.0867
Hom.:
240
Bravo
AF:
0.263
Asia WGS
AF:
0.141
AC:
487
AN:
3448

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
1.5
DANN
Benign
0.14

Splicing

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: rs13338499; hg19: chr16-67520123; API