NM_016599.5:c.76+10A>G
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_016599.5(MYOZ2):c.76+10A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00023 in 1,610,538 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_016599.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000112 AC: 28AN: 249564Hom.: 0 AF XY: 0.0000519 AC XY: 7AN XY: 134920
GnomAD4 exome AF: 0.000241 AC: 351AN: 1458324Hom.: 0 Cov.: 31 AF XY: 0.000225 AC XY: 163AN XY: 725648
GnomAD4 genome AF: 0.000131 AC: 20AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74362
ClinVar
Submissions by phenotype
not specified Benign:2
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76+10A>G in intron 2 of MYOZ2: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. It has been identified in 5/8595 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). 76+ 10A>G in intron 02 of MYOZ2 (allele frequency = 5/8595) ** -
not provided Benign:1
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Hypertrophic cardiomyopathy Benign:1
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MYOZ2-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at