rs4143620

chr15-49975862-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_024837.4(ATP8B4):c.1035-3072C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0542 in 151,896 control chromosomes in the GnomAD database, including 471 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 0.054 (471 hom., cov: 33)
• Consequence: ATP8B4 NM_024837.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.798

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]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.276 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ATP8B4	NM_024837.4	c.1035-3072C>T		intron_variant		ENST00000284509.11

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ATP8B4	ENST00000284509.11	c.1035-3072C>T		intron_variant		5	NM_024837.4	P1

Frequencies

GnomAD3 genomes AF: 0.0542 AC: 8233 AN: 151778 Hom.: 470 Cov.: 33

Gnomad AFR AF: 0.0120

Gnomad AMI AF: 0.0275

Gnomad AMR AF: 0.0942

Gnomad ASJ AF: 0.0190

Gnomad EAS AF: 0.288

Gnomad SAS AF: 0.0729

Gnomad FIN AF: 0.0938

Gnomad MID AF: 0.0287

Gnomad NFE AF: 0.0483

Gnomad OTH AF: 0.0450

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0542 AC: 8235 AN: 151896 Hom.: 471 Cov.: 33 AF XY: 0.0593 AC XY: 4405 AN XY: 74230

Gnomad4 AFR AF: 0.0119

Gnomad4 AMR AF: 0.0946

Gnomad4 ASJ AF: 0.0190

Gnomad4 EAS AF: 0.288

Gnomad4 SAS AF: 0.0726

Gnomad4 FIN AF: 0.0938

Gnomad4 NFE AF: 0.0483

Gnomad4 OTH AF: 0.0440

Alfa AF: 0.0527 Hom.: 28

Bravo AF: 0.0515

Asia WGS AF: 0.154 AC: 533 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
Cadd	Benign	8.5
Dann	Benign	0.71

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

Other links and lift over

dbSNP: rs4143620; hg19: chr15-50268059;