rs34412194
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000047.3(ARSL):c.548G>A(p.Arg183His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00448 in 1,209,010 control chromosomes in the GnomAD database, including 46 homozygotes. There are 1,495 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000047.3 missense
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: 0.0128 AC: 1417AN: 110783Hom.: 18 Cov.: 22 AF XY: 0.0103 AC XY: 339AN XY: 33005
GnomAD3 exomes AF: 0.00426 AC: 780AN: 183199Hom.: 7 AF XY: 0.00324 AC XY: 219AN XY: 67657
GnomAD4 exome AF: 0.00364 AC: 3999AN: 1098173Hom.: 28 Cov.: 32 AF XY: 0.00317 AC XY: 1154AN XY: 363529
GnomAD4 genome AF: 0.0128 AC: 1420AN: 110837Hom.: 18 Cov.: 22 AF XY: 0.0103 AC XY: 341AN XY: 33069
ClinVar
Submissions by phenotype
not specified Benign:2
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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. -
not provided Benign:2
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Chondrodysplasia punctata, brachytelephalangic, autosomal Benign:1
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X-linked chondrodysplasia punctata 1 Benign:1
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Connective tissue disorder Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at