rs10519249

Variant summary

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

The NM_024837.4(ATP8B4):​c.1035-3383C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.528 in 151,790 control chromosomes in the GnomAD database, including 23,762 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 0.53 ( 23762 hom., cov: 31)

Consequence

ATP8B4
NM_024837.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.09
Variant links:
Genes affected
ATP8B4 (HGNC:13536): (ATPase phospholipid transporting 8B4 (putative)) This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

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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=-1.0).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.787 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
ATP8B4NM_024837.4 linkuse as main transcriptc.1035-3383C>T intron_variant ENST00000284509.11 NP_079113.2

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ATP8B4ENST00000284509.11 linkuse as main transcriptc.1035-3383C>T intron_variant 5 NM_024837.4 ENSP00000284509 P1

Frequencies

GnomAD3 genomes
AF:
0.528
AC:
80089
AN:
151672
Hom.:
23706
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.794
Gnomad AMI
AF:
0.356
Gnomad AMR
AF:
0.539
Gnomad ASJ
AF:
0.508
Gnomad EAS
AF:
0.653
Gnomad SAS
AF:
0.596
Gnomad FIN
AF:
0.259
Gnomad MID
AF:
0.475
Gnomad NFE
AF:
0.395
Gnomad OTH
AF:
0.536
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.528
AC:
80209
AN:
151790
Hom.:
23762
Cov.:
31
AF XY:
0.525
AC XY:
38893
AN XY:
74128
show subpopulations
Gnomad4 AFR
AF:
0.794
Gnomad4 AMR
AF:
0.540
Gnomad4 ASJ
AF:
0.508
Gnomad4 EAS
AF:
0.653
Gnomad4 SAS
AF:
0.595
Gnomad4 FIN
AF:
0.259
Gnomad4 NFE
AF:
0.395
Gnomad4 OTH
AF:
0.541
Alfa
AF:
0.438
Hom.:
7251
Bravo
AF:
0.559
Asia WGS
AF:
0.664
AC:
2305
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
2.3
DANN
Benign
0.16

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
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: rs10519249; hg19: chr15-50268370; API