NM_001637.4:c.1219C>A
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_001637.4(AOAH):c.1219C>A(p.Leu407Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000421 in 1,613,984 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001637.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152210Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.0000239 AC: 6AN: 251362 AF XY: 0.0000294 show subpopulations
GnomAD4 exome AF: 0.0000452 AC: 66AN: 1461774Hom.: 1 Cov.: 31 AF XY: 0.0000413 AC XY: 30AN XY: 727192 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152210Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74364 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1219C>A (p.L407M) alteration is located in exon 16 (coding exon 16) of the AOAH gene. This alteration results from a C to A substitution at nucleotide position 1219, causing the leucine (L) at amino acid position 407 to be replaced by a methionine (M). 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