rs121913002
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_001927.4(DES):c.1353C>A(p.Ile451Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,926 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 (★). Synonymous variant affecting the same amino acid position (i.e. I451I) has been classified as Benign.
Frequency
Consequence
NM_001927.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151926Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1450936Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 720562
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151926Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74198
ClinVar
Submissions by phenotype
Desmin-related myofibrillar myopathy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at