chr7-36576645-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001637.4(AOAH):c.950A>G(p.Lys317Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000407 in 1,549,198 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AOAH | NM_001637.4 | c.950A>G | p.Lys317Arg | missense_variant | 13/21 | ENST00000617537.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AOAH | ENST00000617537.5 | c.950A>G | p.Lys317Arg | missense_variant | 13/21 | 1 | NM_001637.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000223 AC: 34AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000387 AC: 9AN: 232738Hom.: 0 AF XY: 0.0000318 AC XY: 4AN XY: 125924
GnomAD4 exome AF: 0.0000208 AC: 29AN: 1397054Hom.: 0 Cov.: 24 AF XY: 0.0000158 AC XY: 11AN XY: 697192
GnomAD4 genome ? AF: 0.000223 AC: 34AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.000215 AC XY: 16AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 20, 2023 | The c.950A>G (p.K317R) alteration is located in exon 13 (coding exon 13) of the AOAH gene. This alteration results from a A to G substitution at nucleotide position 950, causing the lysine (K) at amino acid position 317 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