ENST00000477346.6:c.506-5393G>T

Variant names:

• chrX-15254138-A-.
• NM_001031739.3:c.282+599T>.

Variant summary

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

The ENST00000477346.6(ASB9):​c.27+599T>. 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., N/A hem., cov:)
  • Exomes 𝑓: N/A (N/A hom. N/A hem.)
• Consequence: ASB9 ENST00000477346.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

ASB9 (HGNC:17184): (ankyrin repeat and SOCS box containing 9) This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000477346.6. 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
	ASB9	NM_001031739.3	MANE Select	c.282+599T>.		intron	N/A	NP_001026909.1	Q96DX5-1
	ASB9	NM_001168531.2		c.282+599T>.		intron	N/A	NP_001162003.1	Q96DX5-2
	ASB9	NM_024087.3		c.282+599T>.		intron	N/A	NP_076992.1	Q96DX5-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ASB9	ENST00000380488.9	TSL:1 MANE Select	c.282+599T>.		intron	N/A	ENSP00000369855.4	Q96DX5-1
	ASB9	ENST00000380485.7	TSL:1	c.282+599T>.		intron	N/A	ENSP00000369852.3	Q96DX5-2
	ASB9	ENST00000380483.7	TSL:1	c.282+599T>.		intron	N/A	ENSP00000369850.3	Q96DX5-3

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: chrX-15272260;