X-112780975-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001113490.2(AMOT):c.2384G>T(p.Gly795Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001113490.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AMOT | ENST00000371959.9 | c.2384G>T | p.Gly795Val | missense_variant | Exon 12 of 14 | 1 | NM_001113490.2 | ENSP00000361027.3 | ||
AMOT | ENST00000371962.5 | c.1688G>T | p.Gly563Val | missense_variant | Exon 9 of 11 | 1 | ENSP00000361030.1 | |||
AMOT | ENST00000304758.5 | c.1157G>T | p.Gly386Val | missense_variant | Exon 10 of 12 | 1 | ENSP00000305557.1 | |||
AMOT | ENST00000371958.1 | c.1688G>T | p.Gly563Val | missense_variant | Exon 9 of 9 | 5 | ENSP00000361026.1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2384G>T (p.G795V) alteration is located in exon 9 (coding exon 9) of the AMOT gene. This alteration results from a G to T substitution at nucleotide position 2384, causing the glycine (G) at amino acid position 795 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.