ENST00000649263.1:n.328-82380A>C

Variant names:

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

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_001366057.1(OTUD4):​c.-254C>. variant causes a 5 prime UTR change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: OTUD4 NM_001366057.1 5_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No 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: Uncertain_significance. The variant received 0 ACMG points.

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>.		5_prime_UTR	Exon 1 of 21	NP_001352986.1	Q01804-1
	OTUD4	NM_001366058.1		c.-254C>.		5_prime_UTR	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>.		5_prime_UTR	Exon 1 of 21	ENSP00000395487.2	Q01804-1
	OTUD4	ENST00000924606.1		c.-254C>.		5_prime_UTR	Exon 1 of 21	ENSP00000594665.1
	OTUD4	ENST00000924608.1		c.-254C>.		5_prime_UTR	Exon 1 of 21	ENSP00000594667.1

Frequencies

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

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Splicing

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

Other links and lift over

hg19: chr4-146101379;