rs747872748
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001088.3(AANAT):c.392G>A(p.Arg131Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000257 in 1,557,540 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001088.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AANAT | NM_001088.3 | c.392G>A | p.Arg131Gln | missense_variant | Exon 4 of 4 | ENST00000392492.8 | NP_001079.1 | |
AANAT | NM_001166579.2 | c.527G>A | p.Arg176Gln | missense_variant | Exon 7 of 7 | NP_001160051.1 | ||
AANAT | NR_110548.2 | n.648G>A | non_coding_transcript_exon_variant | Exon 4 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AANAT | ENST00000392492.8 | c.392G>A | p.Arg131Gln | missense_variant | Exon 4 of 4 | 1 | NM_001088.3 | ENSP00000376282.2 | ||
AANAT | ENST00000250615.7 | c.527G>A | p.Arg176Gln | missense_variant | Exon 7 of 7 | 1 | ENSP00000250615.2 | |||
AANAT | ENST00000587798.1 | n.*169G>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 5 | ENSP00000468239.1 | ||||
AANAT | ENST00000587798.1 | n.*169G>A | 3_prime_UTR_variant | Exon 4 of 4 | 5 | ENSP00000468239.1 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000448 AC: 8AN: 178460Hom.: 0 AF XY: 0.0000204 AC XY: 2AN XY: 97890
GnomAD4 exome AF: 0.0000185 AC: 26AN: 1405312Hom.: 0 Cov.: 31 AF XY: 0.0000159 AC XY: 11AN XY: 693064
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.392G>A (p.R131Q) alteration is located in exon 4 (coding exon 3) of the AANAT gene. This alteration results from a G to A substitution at nucleotide position 392, causing the arginine (R) at amino acid position 131 to be replaced by a glutamine (Q). 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