NM_001088.3:c.302A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001088.3(AANAT):āc.302A>Gā(p.Lys101Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000204 in 1,613,914 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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.302A>G | p.Lys101Arg | missense_variant | Exon 3 of 4 | ENST00000392492.8 | NP_001079.1 | |
AANAT | NM_001166579.2 | c.437A>G | p.Lys146Arg | missense_variant | Exon 6 of 7 | NP_001160051.1 | ||
AANAT | NR_110548.2 | n.558A>G | non_coding_transcript_exon_variant | Exon 3 of 4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251262Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135802
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461704Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727172
GnomAD4 genome AF: 0.000145 AC: 22AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.302A>G (p.K101R) alteration is located in exon 3 (coding exon 2) of the AANAT gene. This alteration results from a A to G substitution at nucleotide position 302, causing the lysine (K) at amino acid position 101 to be replaced by an arginine (R). 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