NM_020919.4:c.1578A>G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_020919.4(ALS2):āc.1578A>Gā(p.Thr526Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000275 in 1,614,170 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_020919.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000273 AC: 68AN: 249500Hom.: 0 AF XY: 0.000310 AC XY: 42AN XY: 135362
GnomAD4 exome AF: 0.000286 AC: 418AN: 1461864Hom.: 3 Cov.: 32 AF XY: 0.000311 AC XY: 226AN XY: 727240
GnomAD4 genome AF: 0.000171 AC: 26AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74468
ClinVar
Submissions by phenotype
not provided Benign:3
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ALS2: BP4, BP7 -
Hereditary spastic paraplegia Uncertain:1
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Infantile-onset ascending hereditary spastic paralysis Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at