14-23412834-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000257.4(MYH7):c.*20G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00653 in 1,613,934 control chromosomes in the GnomAD database, including 46 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000257.4 3_prime_UTR
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: 0.00453 AC: 690AN: 152216Hom.: 3 Cov.: 33
GnomAD3 exomes AF: 0.00467 AC: 1173AN: 251314Hom.: 3 AF XY: 0.00458 AC XY: 622AN XY: 135836
GnomAD4 exome AF: 0.00674 AC: 9846AN: 1461600Hom.: 43 Cov.: 31 AF XY: 0.00664 AC XY: 4831AN XY: 727108
GnomAD4 genome AF: 0.00453 AC: 690AN: 152334Hom.: 3 Cov.: 33 AF XY: 0.00423 AC XY: 315AN XY: 74502
ClinVar
Submissions by phenotype
not specified Benign:5
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Scapuloperoneal myopathy Benign:1
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Myosin storage myopathy Benign:1
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MYH7-related skeletal myopathy Benign:1
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Dilated Cardiomyopathy, Dominant Benign:1
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not provided Benign:1
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Left ventricular noncompaction cardiomyopathy Benign:1
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Hypertrophic cardiomyopathy Benign:1
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Hypertrophic cardiomyopathy 1 Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at