X-55009187-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000032.5(ALAS2):āc.1757A>Cā(p.Tyr586Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000009 in 111,073 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000032.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000900 AC: 1AN: 111073Hom.: 0 Cov.: 23 AF XY: 0.0000300 AC XY: 1AN XY: 33299
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.00000900 AC: 1AN: 111073Hom.: 0 Cov.: 23 AF XY: 0.0000300 AC XY: 1AN XY: 33299
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at