chr17-76469184-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001088.3(AANAT):c.175G>A(p.Val59Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000545 in 1,614,098 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AANAT | NM_001088.3 | c.175G>A | p.Val59Ile | missense_variant | Exon 3 of 4 | ENST00000392492.8 | NP_001079.1 | |
AANAT | NM_001166579.2 | c.310G>A | p.Val104Ile | missense_variant | Exon 6 of 7 | NP_001160051.1 | ||
AANAT | NR_110548.2 | n.431G>A | non_coding_transcript_exon_variant | Exon 3 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AANAT | ENST00000392492.8 | c.175G>A | p.Val59Ile | missense_variant | Exon 3 of 4 | 1 | NM_001088.3 | ENSP00000376282.2 | ||
AANAT | ENST00000250615.7 | c.310G>A | p.Val104Ile | missense_variant | Exon 6 of 7 | 1 | ENSP00000250615.2 | |||
AANAT | ENST00000585649.1 | c.289G>A | p.Val97Ile | missense_variant | Exon 2 of 3 | 1 | ENSP00000468717.1 | |||
AANAT | ENST00000587798.1 | n.231G>A | non_coding_transcript_exon_variant | Exon 3 of 4 | 5 | ENSP00000468239.1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251230Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135786
GnomAD4 exome AF: 0.0000540 AC: 79AN: 1461768Hom.: 0 Cov.: 31 AF XY: 0.0000591 AC XY: 43AN XY: 727198
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.175G>A (p.V59I) alteration is located in exon 3 (coding exon 2) of the AANAT gene. This alteration results from a G to A substitution at nucleotide position 175, causing the valine (V) at amino acid position 59 to be replaced by an isoleucine (I). 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