4-145180227-G-C

Variant names:

• chr4-145180227-G-C
• rs971692255
• NM_001366057.1:c.-254C>G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_001366057.1(OTUD4):​c.-254C>G variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 32)
• Consequence: OTUD4 NM_001366057.1 5_prime_UTR_premature_start_codon_gain
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.398
• Publications: 0 publications found

Genes affected

OTUD4 (HGNC:24949): (OTU deubiquitinase 4) Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001366057.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OTUD4	NM_001366057.1	MANE Select	c.-254C>G		5_prime_UTR_premature_start_codon_gain	Exon 1 of 21	NP_001352986.1	Q01804-1
	OTUD4	NM_001366057.1	MANE Select	c.-254C>G		5_prime_UTR	Exon 1 of 21	NP_001352986.1	Q01804-1
	OTUD4	NM_001366058.1		c.-254C>G		5_prime_UTR_premature_start_codon_gain	Exon 1 of 7	NP_001352987.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	OTUD4	ENST00000447906.8	TSL:5 MANE Select	c.-254C>G		5_prime_UTR_premature_start_codon_gain	Exon 1 of 21	ENSP00000395487.2	Q01804-1
	OTUD4	ENST00000447906.8	TSL:5 MANE Select	c.-254C>G		5_prime_UTR	Exon 1 of 21	ENSP00000395487.2	Q01804-1
	OTUD4	ENST00000924606.1		c.-254C>G		5_prime_UTR_premature_start_codon_gain	Exon 1 of 21	ENSP00000594665.1

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	5.8
DANN	Benign	0.60
PhyloP100		-0.40
PromoterAI		-0.058	Neutral

Splicing

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

Other links and lift over

dbSNP: rs971692255; hg19: chr4-146101379;