rs17499726

Positions:

• chr15-50137031-C-G

Variant summary

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

The ENST00000558829.1(ATP8B4):​c.-42-30023G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0942 in 152,184 control chromosomes in the GnomAD database, including 863 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 0.094 (863 hom., cov: 32)
• Consequence: ATP8B4 ENST00000558829.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.28

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=-0.77).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.121 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ATP8B4	XM_011522056.4	c.-42-30023G>C		intron_variant
ATP8B4	XM_017022587.3	c.-42-30023G>C		intron_variant
ATP8B4	XM_047433096.1	c.-42-30023G>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ATP8B4	ENST00000558829.1	c.-42-30023G>C		intron_variant		3

Frequencies

GnomAD3 genomes AF: 0.0943 AC: 14334 AN: 152066 Hom.: 864 Cov.: 32

Gnomad AFR AF: 0.0305

Gnomad AMI AF: 0.120

Gnomad AMR AF: 0.107

Gnomad ASJ AF: 0.121

Gnomad EAS AF: 0.0331

Gnomad SAS AF: 0.0592

Gnomad FIN AF: 0.174

Gnomad MID AF: 0.165

Gnomad NFE AF: 0.123

Gnomad OTH AF: 0.0994

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

GnomAD4 genome AF: 0.0942 AC: 14335 AN: 152184 Hom.: 863 Cov.: 32 AF XY: 0.0966 AC XY: 7189 AN XY: 74402

Gnomad4 AFR AF: 0.0305

Gnomad4 AMR AF: 0.107

Gnomad4 ASJ AF: 0.121

Gnomad4 EAS AF: 0.0336

Gnomad4 SAS AF: 0.0586

Gnomad4 FIN AF: 0.174

Gnomad4 NFE AF: 0.123

Gnomad4 OTH AF: 0.0984

Alfa AF: 0.107 Hom.: 130

Bravo AF: 0.0846

Asia WGS AF: 0.0470 AC: 163 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	17
DANN	Benign	0.84

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs17499726; hg19: chr15-50429228;