chr17-76469737-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001088.3(AANAT):c.391C>T(p.Arg131Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000519 in 1,559,266 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AANAT | NM_001088.3 | c.391C>T | p.Arg131Trp | missense_variant | Exon 4 of 4 | ENST00000392492.8 | NP_001079.1 | |
AANAT | NM_001166579.2 | c.526C>T | p.Arg176Trp | missense_variant | Exon 7 of 7 | NP_001160051.1 | ||
AANAT | NR_110548.2 | n.647C>T | non_coding_transcript_exon_variant | Exon 4 of 4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000220 AC: 4AN: 181882Hom.: 0 AF XY: 0.0000100 AC XY: 1AN XY: 99658
GnomAD4 exome AF: 0.0000547 AC: 77AN: 1407030Hom.: 0 Cov.: 31 AF XY: 0.0000533 AC XY: 37AN XY: 694040
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.391C>T (p.R131W) alteration is located in exon 4 (coding exon 3) of the AANAT gene. This alteration results from a C to T substitution at nucleotide position 391, causing the arginine (R) at amino acid position 131 to be replaced by a tryptophan (W). 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