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ENST00000711210.1:c.706G>A
Variant names:
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The ENST00000711210.1(ASMT):c.706G>A(p.Val236Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: )
Consequence
ASMT
ENST00000711210.1 missense
ENST00000711210.1 missense
Scores
1
Clinical Significance
Conservation
PhyloP100: 1.81
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]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (Cadd=0.53).
Transcripts
RefSeq
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| ASMT | ENST00000711210.1 | c.706G>A | p.Val236Ile | missense_variant | Exon 7 of 9 | 1 | ENSP00000518608.1 | |||
| ASMT | ENST00000711209.1 | c.622G>A | p.Val208Ile | missense_variant | Exon 6 of 8 | 1 | ENSP00000518607.1 | |||
| ASMT | ENST00000711208.1 | c.563-3229G>A | intron_variant | Intron 5 of 6 | 1 | ENSP00000518606.1 | ||||
| ASMT | ENST00000711207.1 | n.289-3033G>A | intron_variant | Intron 1 of 1 | 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
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Mar 04, 2025
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Significance: Uncertain significance
Review Status: criteria provided, single submitter
Collection Method: clinical testing
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Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
CADD
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at