6-158450141-T-C

Variant names:

• chr6-158450141-T-C
• rs341138
• NM_020245.5:c.724+965T>C

Variant summary

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

The NM_020245.5(TULP4):​c.724+965T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.417 in 152,012 control chromosomes in the GnomAD database, including 14,496 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 0.42 (14496 hom., cov: 32)
• Consequence: TULP4 NM_020245.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.417
• Publications: 3 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]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.614 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TULP4	NM_020245.5	c.724+965T>C		intron_variant	Intron 4 of 13	ENST00000367097.8	NP_064630.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TULP4	ENST00000367097.8	c.724+965T>C		intron_variant	Intron 4 of 13	1	NM_020245.5	ENSP00000356064.3
TULP4	ENST00000367094.6	c.724+965T>C		intron_variant	Intron 4 of 12	1		ENSP00000356061.2
TULP4	ENST00000616856.1	n.1296+965T>C		intron_variant	Intron 4 of 7	2

Frequencies

GnomAD3 genomes AF: 0.417 AC: 63279 AN: 151894 Hom.: 14462 Cov.: 32

Gnomad AFR AF: 0.621

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.364

Gnomad ASJ AF: 0.386

Gnomad EAS AF: 0.365

Gnomad SAS AF: 0.501

Gnomad FIN AF: 0.248

Gnomad MID AF: 0.307

Gnomad NFE AF: 0.333

Gnomad OTH AF: 0.396

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

GnomAD4 genome AF: 0.417 AC: 63364 AN: 152012 Hom.: 14496 Cov.: 32 AF XY: 0.413 AC XY: 30691 AN XY: 74302

African (AFR) AF: 0.621 AC: 25729 AN: 41446

American (AMR) AF: 0.364 AC: 5564 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.386 AC: 1337 AN: 3468

East Asian (EAS) AF: 0.365 AC: 1881 AN: 5156

South Asian (SAS) AF: 0.502 AC: 2414 AN: 4812

European-Finnish (FIN) AF: 0.248 AC: 2620 AN: 10580

Middle Eastern (MID) AF: 0.306 AC: 90 AN: 294

European-Non Finnish (NFE) AF: 0.333 AC: 22645 AN: 67950

Other (OTH) AF: 0.393 AC: 827 AN: 2106

Alfa AF: 0.387 Hom.: 2170

Bravo AF: 0.429

Asia WGS AF: 0.457 AC: 1591 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	1.7
DANN	Benign	0.79
PhyloP100		-0.42
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: rs341138; hg19: chr6-158871173;