chr20-31820339-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_033118.4(MYLK2):c.266G>A(p.Gly89Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00229 in 1,612,926 control chromosomes in the GnomAD database, including 67 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_033118.4 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: 0.0125 AC: 1904AN: 152230Hom.: 36 Cov.: 32
GnomAD3 exomes AF: 0.00317 AC: 783AN: 246836Hom.: 14 AF XY: 0.00226 AC XY: 304AN XY: 134392
GnomAD4 exome AF: 0.00122 AC: 1786AN: 1460578Hom.: 31 Cov.: 32 AF XY: 0.00103 AC XY: 751AN XY: 726574
GnomAD4 genome AF: 0.0125 AC: 1908AN: 152348Hom.: 36 Cov.: 32 AF XY: 0.0119 AC XY: 890AN XY: 74492
ClinVar
Submissions by phenotype
not specified Benign:2
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. -
Gly89Asp in exon 3 of MYLK2: This variant is not expected to have clinical signi ficance because it has been identified in 3.9% (146/3716) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs115398036). -
Hypertrophic cardiomyopathy 1 Benign:2
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Cardiomyopathy Benign:1
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not provided Benign:1
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Hypertrophic cardiomyopathy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at