rs17487348

Positions:

• chr15-49871611-G-A
• chr15-49871611-G-C

Variant summary

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

The NM_024837.4(ATP8B4):​c.3027+4667C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.308 in 152,090 control chromosomes in the GnomAD database, including 8,516 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 0.31 (8516 hom., cov: 32)
• Consequence: ATP8B4 NM_024837.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.348

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=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.394 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ATP8B4	NM_024837.4	c.3027+4667C>T		intron_variant		ENST00000284509.11	NP_079113.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ATP8B4	ENST00000284509.11	c.3027+4667C>T		intron_variant		5	NM_024837.4	ENSP00000284509	P1

Frequencies

GnomAD3 genomes AF: 0.308 AC: 46836 AN: 151972 Hom.: 8523 Cov.: 32

Gnomad AFR AF: 0.107

Gnomad AMI AF: 0.247

Gnomad AMR AF: 0.342

Gnomad ASJ AF: 0.469

Gnomad EAS AF: 0.309

Gnomad SAS AF: 0.243

Gnomad FIN AF: 0.443

Gnomad MID AF: 0.439

Gnomad NFE AF: 0.398

Gnomad OTH AF: 0.341

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

GnomAD4 genome AF: 0.308 AC: 46824 AN: 152090 Hom.: 8516 Cov.: 32 AF XY: 0.311 AC XY: 23147 AN XY: 74330

Gnomad4 AFR AF: 0.107

Gnomad4 AMR AF: 0.342

Gnomad4 ASJ AF: 0.469

Gnomad4 EAS AF: 0.309

Gnomad4 SAS AF: 0.243

Gnomad4 FIN AF: 0.443

Gnomad4 NFE AF: 0.398

Gnomad4 OTH AF: 0.338

Alfa AF: 0.363 Hom.: 4707

Bravo AF: 0.295

Asia WGS AF: 0.264 AC: 921 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.7
DANN	Benign	0.34

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.020		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: rs17487348; hg19: chr15-50163808;