rs80097077
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_020549.5(CHAT):c.1682G>A(p.Arg561Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0096 in 1,614,060 control chromosomes in the GnomAD database, including 87 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_020549.5 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: 0.00812 AC: 1235AN: 152120Hom.: 9 Cov.: 32
GnomAD3 exomes AF: 0.00750 AC: 1885AN: 251288Hom.: 13 AF XY: 0.00751 AC XY: 1020AN XY: 135878
GnomAD4 exome AF: 0.00976 AC: 14264AN: 1461822Hom.: 78 Cov.: 37 AF XY: 0.00947 AC XY: 6890AN XY: 727224
GnomAD4 genome AF: 0.00811 AC: 1235AN: 152238Hom.: 9 Cov.: 32 AF XY: 0.00816 AC XY: 607AN XY: 74428
ClinVar
Submissions by phenotype
not provided Benign:5
CHAT: BS1, BS2 -
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not specified Benign:3
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. -
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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. -
Familial infantile myasthenia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at