chr15-49929161-A-C

Position:

• chr15-49929161-A-C

Variant summary

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

The NM_024837.4(ATP8B4):​c.1642+1958T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.13 in 152,084 control chromosomes in the GnomAD database, including 1,693 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 0.13 (1693 hom., cov: 33)
• Consequence: ATP8B4 NM_024837.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.980

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=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.339 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ATP8B4	NM_024837.4	c.1642+1958T>G		intron_variant		ENST00000284509.11

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ATP8B4	ENST00000284509.11	c.1642+1958T>G		intron_variant		5	NM_024837.4	P1

Frequencies

GnomAD3 genomes AF: 0.130 AC: 19749 AN: 151966 Hom.: 1692 Cov.: 33

Gnomad AFR AF: 0.0533

Gnomad AMI AF: 0.156

Gnomad AMR AF: 0.149

Gnomad ASJ AF: 0.0352

Gnomad EAS AF: 0.353

Gnomad SAS AF: 0.173

Gnomad FIN AF: 0.273

Gnomad MID AF: 0.0538

Gnomad NFE AF: 0.136

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.130 AC: 19757 AN: 152084 Hom.: 1693 Cov.: 33 AF XY: 0.139 AC XY: 10336 AN XY: 74344

Gnomad4 AFR AF: 0.0532

Gnomad4 AMR AF: 0.150

Gnomad4 ASJ AF: 0.0352

Gnomad4 EAS AF: 0.353

Gnomad4 SAS AF: 0.173

Gnomad4 FIN AF: 0.273

Gnomad4 NFE AF: 0.136

Gnomad4 OTH AF: 0.107

Alfa AF: 0.133 Hom.: 695

Bravo AF: 0.117

Asia WGS AF: 0.234 AC: 814 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.1
DANN	Benign	0.36

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: rs2413980; hg19: chr15-50221358;