rs9815354

Positions:

• chr3-41871159-G-A
• chr3-41871159-G-C
• chr3-41871159-G-T

Variant summary

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

The NM_017886.4(ULK4):​c.1656+12715C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.18 in 152,012 control chromosomes in the GnomAD database, including 2,525 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 0.18 (2525 hom., cov: 32)
• Consequence: ULK4 NM_017886.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.171

Genes affected

ULK4 (HGNC:15784): (unc-51 like kinase 4) This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.192 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ULK4	NM_017886.4	c.1656+12715C>T		intron_variant		ENST00000301831.9
ULK4	NM_001322500.2	c.1656+12715C>T		intron_variant
ULK4	NM_001322501.2	c.750+12715C>T		intron_variant
ULK4	NR_136342.2	n.1722+12715C>T		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ULK4	ENST00000301831.9	c.1656+12715C>T		intron_variant		2	NM_017886.4	P1

Frequencies

GnomAD3 genomes AF: 0.180 AC: 27300 AN: 151894 Hom.: 2521 Cov.: 32

Gnomad AFR AF: 0.196

Gnomad AMI AF: 0.217

Gnomad AMR AF: 0.156

Gnomad ASJ AF: 0.171

Gnomad EAS AF: 0.166

Gnomad SAS AF: 0.186

Gnomad FIN AF: 0.225

Gnomad MID AF: 0.323

Gnomad NFE AF: 0.168

Gnomad OTH AF: 0.194

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

GnomAD4 genome AF: 0.180 AC: 27309 AN: 152012 Hom.: 2525 Cov.: 32 AF XY: 0.182 AC XY: 13546 AN XY: 74290

Gnomad4 AFR AF: 0.196

Gnomad4 AMR AF: 0.156

Gnomad4 ASJ AF: 0.171

Gnomad4 EAS AF: 0.166

Gnomad4 SAS AF: 0.186

Gnomad4 FIN AF: 0.225

Gnomad4 NFE AF: 0.168

Gnomad4 OTH AF: 0.193

Alfa AF: 0.162 Hom.: 2302

Bravo AF: 0.175

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.3
DANN	Benign	0.16

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: rs9815354; hg19: chr3-41912651;