chr7-36616393-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001637.4(AOAH):c.833C>T(p.Ser278Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000359 in 1,613,568 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001637.4 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 |
---|---|---|---|---|---|---|---|
AOAH | NM_001637.4 | c.833C>T | p.Ser278Leu | missense_variant | 11/21 | ENST00000617537.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AOAH | ENST00000617537.5 | c.833C>T | p.Ser278Leu | missense_variant | 11/21 | 1 | NM_001637.4 | P1 | |
AOAH | ENST00000617267.4 | c.833C>T | p.Ser278Leu | missense_variant | 11/22 | 1 | |||
AOAH | ENST00000612871.4 | c.737C>T | p.Ser246Leu | missense_variant | 10/20 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152172Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251248Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135812
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461396Hom.: 0 Cov.: 30 AF XY: 0.0000303 AC XY: 22AN XY: 727046
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152172Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 05, 2023 | The c.833C>T (p.S278L) alteration is located in exon 11 (coding exon 11) of the AOAH gene. This alteration results from a C to T substitution at nucleotide position 833, causing the serine (S) at amino acid position 278 to be replaced by a leucine (L). 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