NM_001113490.2:c.3095C>T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001113490.2(AMOT):c.3095C>T(p.Ala1032Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000335 in 1,207,493 control chromosomes in the GnomAD database, including 5 homozygotes. There are 109 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001113490.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AMOT | ENST00000371959.9 | c.3095C>T | p.Ala1032Val | missense_variant | Exon 13 of 14 | 1 | NM_001113490.2 | ENSP00000361027.3 | ||
AMOT | ENST00000371962.5 | c.2399C>T | p.Ala800Val | missense_variant | Exon 10 of 11 | 1 | ENSP00000361030.1 | |||
AMOT | ENST00000304758.5 | c.1868C>T | p.Ala623Val | missense_variant | Exon 11 of 12 | 1 | ENSP00000305557.1 |
Frequencies
GnomAD3 genomes AF: 0.00186 AC: 205AN: 110118Hom.: 2 Cov.: 23 AF XY: 0.00169 AC XY: 55AN XY: 32638
GnomAD3 exomes AF: 0.000495 AC: 89AN: 179926Hom.: 1 AF XY: 0.000304 AC XY: 20AN XY: 65782
GnomAD4 exome AF: 0.000183 AC: 201AN: 1097322Hom.: 3 Cov.: 30 AF XY: 0.000149 AC XY: 54AN XY: 362688
GnomAD4 genome AF: 0.00185 AC: 204AN: 110171Hom.: 2 Cov.: 23 AF XY: 0.00168 AC XY: 55AN XY: 32701
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at