17-76469731-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001088.3(AANAT):c.385G>C(p.Ala129Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A129T) has been classified 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AANAT | NM_001088.3 | c.385G>C | p.Ala129Pro | missense_variant | 4/4 | ENST00000392492.8 | |
AANAT | NM_001166579.2 | c.520G>C | p.Ala174Pro | missense_variant | 7/7 | ||
AANAT | NR_110548.2 | n.641G>C | non_coding_transcript_exon_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AANAT | ENST00000392492.8 | c.385G>C | p.Ala129Pro | missense_variant | 4/4 | 1 | NM_001088.3 | P1 | |
AANAT | ENST00000250615.7 | c.520G>C | p.Ala174Pro | missense_variant | 7/7 | 1 | |||
AANAT | ENST00000587798.1 | c.*162G>C | 3_prime_UTR_variant, NMD_transcript_variant | 4/4 | 5 | ||||
AANAT | ENST00000585649.1 | downstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at