chr10-48807166-T-G

Position:

• chr10-48807166-T-G

Variant summary

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

The NM_001394531.1(WDFY4):​c.4739-693T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.559 in 151,978 control chromosomes in the GnomAD database, including 24,229 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 0.56 (24229 hom., cov: 32)
• Consequence: WDFY4 NM_001394531.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0770

Genes affected

WDFY4 (HGNC:29323): (WDFY family member 4) Predicted to be involved in autophagy. Predicted to act upstream of or within with a positive effect on CD8-positive, alpha-beta T cell activation. Predicted to act upstream of or within antigen processing and presentation and cellular response to virus. Predicted to be located in early endosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.809 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
WDFY4	NM_001394531.1	c.4739-693T>G		intron_variant		ENST00000325239.12	NP_001381460.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
WDFY4	ENST00000325239.12	c.4739-693T>G		intron_variant		5	NM_001394531.1	ENSP00000320563	P1
WDFY4	ENST00000374161.7	n.378-693T>G		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.558 AC: 84813 AN: 151860 Hom.: 24198 Cov.: 32

Gnomad AFR AF: 0.646

Gnomad AMI AF: 0.529

Gnomad AMR AF: 0.522

Gnomad ASJ AF: 0.559

Gnomad EAS AF: 0.829

Gnomad SAS AF: 0.590

Gnomad FIN AF: 0.524

Gnomad MID AF: 0.646

Gnomad NFE AF: 0.496

Gnomad OTH AF: 0.570

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

GnomAD4 genome AF: 0.559 AC: 84902 AN: 151978 Hom.: 24229 Cov.: 32 AF XY: 0.559 AC XY: 41549 AN XY: 74286

Gnomad4 AFR AF: 0.646

Gnomad4 AMR AF: 0.522

Gnomad4 ASJ AF: 0.559

Gnomad4 EAS AF: 0.830

Gnomad4 SAS AF: 0.592

Gnomad4 FIN AF: 0.524

Gnomad4 NFE AF: 0.496

Gnomad4 OTH AF: 0.568

Alfa AF: 0.489 Hom.: 7941

Bravo AF: 0.563

Asia WGS AF: 0.658 AC: 2289 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	1.0
DANN	Benign	0.19

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: rs2448539; hg19: chr10-50015211;