NM_001113490.2:c.2751T>C
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001113490.2(AMOT):āc.2751T>Cā(p.Ala917Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000316 in 949,781 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_001113490.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AMOT | ENST00000371959.9 | c.2751T>C | p.Ala917Ala | synonymous_variant | Exon 13 of 14 | 1 | NM_001113490.2 | ENSP00000361027.3 | ||
AMOT | ENST00000371962.5 | c.2055T>C | p.Ala685Ala | synonymous_variant | Exon 10 of 11 | 1 | ENSP00000361030.1 | |||
AMOT | ENST00000304758.5 | c.1524T>C | p.Ala508Ala | synonymous_variant | Exon 11 of 12 | 1 | ENSP00000305557.1 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome AF: 0.00000316 AC: 3AN: 949781Hom.: 0 Cov.: 22 AF XY: 0.0000103 AC XY: 3AN XY: 290651
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not provided Benign:1
AMOT: PM2:Supporting, BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at