rs9355652

Variant names:

• chr6-158360403-A-G
• rs9355652
• NM_020245.5:c.252+46135A>G

Your query was ambiguous. Multiple possible variants found:

• chr6-158360403-A-G
• chr6-158360403-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_020245.5(TULP4):​c.252+46135A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.151 in 152,118 control chromosomes in the GnomAD database, including 2,464 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 0.15 (2464 hom., cov: 31)
• Consequence: TULP4 NM_020245.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00200
• Publications: 4 publications found

Genes affected

TULP4 (HGNC:15530): (TUB like protein 4) Predicted to be involved in protein ubiquitination. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000274023 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.418 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TULP4	NM_020245.5	c.252+46135A>G		intron_variant	Intron 1 of 13	ENST00000367097.8	NP_064630.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TULP4	ENST00000367097.8	c.252+46135A>G		intron_variant	Intron 1 of 13	1	NM_020245.5	ENSP00000356064.3
TULP4	ENST00000367094.6	c.252+46135A>G		intron_variant	Intron 1 of 12	1		ENSP00000356061.2
TULP4	ENST00000616856.1	n.824+46135A>G		intron_variant	Intron 1 of 7	2
ENSG00000274023	ENST00000619713.1	n.21-67436A>G		intron_variant	Intron 1 of 1	5

Frequencies

GnomAD3 genomes AF: 0.151 AC: 22986 AN: 152000 Hom.: 2457 Cov.: 31

Gnomad AFR AF: 0.0522

Gnomad AMI AF: 0.130

Gnomad AMR AF: 0.302

Gnomad ASJ AF: 0.194

Gnomad EAS AF: 0.433

Gnomad SAS AF: 0.210

Gnomad FIN AF: 0.179

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.146

Gnomad OTH AF: 0.159

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

GnomAD4 genome AF: 0.151 AC: 23012 AN: 152118 Hom.: 2464 Cov.: 31 AF XY: 0.158 AC XY: 11730 AN XY: 74338

African (AFR) AF: 0.0521 AC: 2165 AN: 41530

American (AMR) AF: 0.302 AC: 4615 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.194 AC: 673 AN: 3468

East Asian (EAS) AF: 0.432 AC: 2236 AN: 5170

South Asian (SAS) AF: 0.211 AC: 1013 AN: 4812

European-Finnish (FIN) AF: 0.179 AC: 1892 AN: 10558

Middle Eastern (MID) AF: 0.112 AC: 33 AN: 294

European-Non Finnish (NFE) AF: 0.146 AC: 9918 AN: 67990

Other (OTH) AF: 0.165 AC: 348 AN: 2114

Alfa AF: 0.142 Hom.: 1514

Bravo AF: 0.162

Asia WGS AF: 0.291 AC: 1013 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.1
DANN	Benign	0.33
PhyloP100		-0.0020
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs9355652; hg19: chr6-158781435;