rs1028101657
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PP3_Moderate
The NM_000240.4(MAOA):c.1498G>A(p.Gly500Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000414 in 1,207,607 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000240.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAOA | NM_000240.4 | c.1498G>A | p.Gly500Ser | missense_variant | 15/15 | ENST00000338702.4 | |
MAOA | NM_001270458.2 | c.1099G>A | p.Gly367Ser | missense_variant | 16/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAOA | ENST00000338702.4 | c.1498G>A | p.Gly500Ser | missense_variant | 15/15 | 1 | NM_000240.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000901 AC: 1AN: 110983Hom.: 0 Cov.: 22 AF XY: 0.0000301 AC XY: 1AN XY: 33177
GnomAD3 exomes AF: 0.00000546 AC: 1AN: 183183Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67743
GnomAD4 exome AF: 0.00000365 AC: 4AN: 1096624Hom.: 0 Cov.: 30 AF XY: 0.00000552 AC XY: 2AN XY: 362060
GnomAD4 genome ? AF: 0.00000901 AC: 1AN: 110983Hom.: 0 Cov.: 22 AF XY: 0.0000301 AC XY: 1AN XY: 33177
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Nov 01, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at