ENST00000358757.5:n.443-17687C>T

Variant names:

• chr8-73823369-A-.
• NM_018299.6:c.210+1778T>.

Variant summary

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

The ENST00000358757.5(ENSG00000258677):​n.210+1778T>. variant causes a intron 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: ENSG00000258677 ENST00000358757.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

UBE2W (HGNC:25616): (ubiquitin conjugating enzyme E2 W) This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

ENSG00000258677 (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000358757.5. 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
	UBE2W	NM_018299.6	MANE Select	c.210+1778T>.		intron	N/A	NP_060769.5
	UBE2W	NM_001001481.4		c.243+1778T>.		intron	N/A	NP_001001481.3	Q96B02-2
	UBE2W	NM_001271015.3		c.210+1778T>.		intron	N/A	NP_001257944.2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	UBE2W	ENST00000602593.6	TSL:1 MANE Select	c.210+1778T>.		intron	N/A	ENSP00000473561.1	Q96B02-1
	UBE2W	ENST00000419880.7	TSL:1	c.330+1778T>.		intron	N/A	ENSP00000397453.3	X6REH9
	UBE2W	ENST00000517608.5	TSL:1	c.297+1778T>.		intron	N/A	ENSP00000428813.2	Q96B02-3

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: chr8-74735604;