rs7177316

chr15-50129633-A-Gchr15-50129633-A-T

Variant summary

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

The ENST00000558829.1(ATP8B4):c.-42-22625T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.506 in 152,026 control chromosomes in the GnomAD database, including 21,094 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 0.51 (21094 hom., cov: 31)
• Consequence: ATP8B4 ENST00000558829.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.178

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=-1.0).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.608 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ATP8B4	XM_011522056.4	c.-42-22625T>C		intron_variant
ATP8B4	XM_017022587.3	c.-42-22625T>C		intron_variant
ATP8B4	XM_047433096.1	c.-42-22625T>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ATP8B4	ENST00000558829.1	c.-42-22625T>C		intron_variant		3

Frequencies

GnomAD3 genomes AF: 0.506 AC: 76921 AN: 151908 Hom.: 21087 Cov.: 31

Gnomad AFR AF: 0.293

Gnomad AMI AF: 0.536

Gnomad AMR AF: 0.484

Gnomad ASJ AF: 0.663

Gnomad EAS AF: 0.454

Gnomad SAS AF: 0.484

Gnomad FIN AF: 0.662

Gnomad MID AF: 0.639

Gnomad NFE AF: 0.613

Gnomad OTH AF: 0.523

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

GnomAD4 genome AF: 0.506 AC: 76951 AN: 152026 Hom.: 21094 Cov.: 31 AF XY: 0.508 AC XY: 37720 AN XY: 74300

Gnomad4 AFR AF: 0.293

Gnomad4 AMR AF: 0.483

Gnomad4 ASJ AF: 0.663

Gnomad4 EAS AF: 0.454

Gnomad4 SAS AF: 0.485

Gnomad4 FIN AF: 0.662

Gnomad4 NFE AF: 0.613

Gnomad4 OTH AF: 0.521

Alfa AF: 0.591 Hom.: 53683

Bravo AF: 0.479

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	1.5
Dann	Benign	0.56

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7177316; hg19: chr15-50421830;