ENST00000711210.1:c.910+8delN

Variant names:

• chrY-1636567-NN-N
• ENST00000711206.2:c.910+8delN

Variant summary

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

The ENST00000711206.2(ASMT):​c.910+8delN variant causes a splice region, 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: ASMT ENST00000711206.2 splice_region, intron
• Clinical Significance: Likely benign no assertion criteria provided B:1
• Conservation: No conservation score assigned
• Publications: 0 publications found

Genes affected

ASMT (HGNC:750): (acetylserotonin O-methyltransferase) This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010]

ASMT (HGNC:):

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000711206.2. 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
	ASMT_1	NM_001171038.2_1		c.910+8delN		splice_region intron	N/A
	ASMT_1	NM_001416525.1_1		c.826+8delN		splice_region intron	N/A
	ASMT_1	NM_001171039.1_1		c.685+8delN		splice_region intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ASMT	ENST00000711206.2	TSL:2	c.910+8delN		splice_region intron	N/A	ENSP00000518605.2
	ASMT	ENST00000972689.1		c.826+8delN		splice_region intron	N/A	ENSP00000642747.1
	ASMT	ENST00000972690.1		c.685+8delN		splice_region intron	N/A	ENSP00000642748.1

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

ClinVar submissions

Significance: Likely benign

Revision: no assertion criteria provided

Pathogenic	VUS	Benign	Condition
-	-	1	ASMT-related disorder (1)

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: chrY-1705460;