8-18071411-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_177924.5(ASAH1):c.126-21A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.479 in 1,467,130 control chromosomes in the GnomAD database, including 172,590 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_177924.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.430 AC: 65227AN: 151782Hom.: 14917 Cov.: 31
GnomAD3 exomes AF: 0.494 AC: 104458AN: 211334Hom.: 26750 AF XY: 0.497 AC XY: 56088AN XY: 112832
GnomAD4 exome AF: 0.485 AC: 637842AN: 1315230Hom.: 157657 Cov.: 20 AF XY: 0.488 AC XY: 320838AN XY: 657758
GnomAD4 genome AF: 0.430 AC: 65282AN: 151900Hom.: 14933 Cov.: 31 AF XY: 0.431 AC XY: 31960AN XY: 74236
ClinVar
Submissions by phenotype
not provided Benign:3
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not specified Benign:1
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Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Benign:1
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Farber lipogranulomatosis Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at