rs13338499
Positions:
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
NR_184227.1 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.792
Genes affected
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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-DT | NR_184227.1 | n.345+1892A>G | intron_variant, non_coding_transcript_variant | |||||
ATP6V0D1-DT | NR_184225.1 | n.345+1892A>G | intron_variant, non_coding_transcript_variant | |||||
ATP6V0D1-DT | NR_184226.1 | n.345+1892A>G | intron_variant, non_coding_transcript_variant | |||||
ATP6V0D1-DT | NR_184228.1 | n.549+1688A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ATP6V0D1-DT | ENST00000656196.1 | n.425+1892A>G | intron_variant, non_coding_transcript_variant | |||||||
ATP6V0D1-DT | ENST00000602476.1 | n.88-594A>G | intron_variant, non_coding_transcript_variant | 3 | ||||||
ATP6V0D1-DT | ENST00000635000.1 | n.332+1892A>G | intron_variant, non_coding_transcript_variant | 5 | ||||||
ATP6V0D1-DT | ENST00000659360.1 | n.366+1892A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.265 AC: 37250AN: 140344Hom.: 8586 Cov.: 27
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27
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.266 AC: 37327AN: 140432Hom.: 8619 Cov.: 27 AF XY: 0.264 AC XY: 18045AN XY: 68454
GnomAD4 genome
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487
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3448
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at