rs3826803
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001005361.3(DNM2):c.236-29C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.539 in 1,612,272 control chromosomes in the GnomAD database, including 235,521 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_001005361.3 intron
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: 0.564 AC: 85604AN: 151870Hom.: 24325 Cov.: 31
GnomAD3 exomes AF: 0.553 AC: 138398AN: 250432Hom.: 38709 AF XY: 0.550 AC XY: 74530AN XY: 135504
GnomAD4 exome AF: 0.536 AC: 783378AN: 1460282Hom.: 211192 Cov.: 46 AF XY: 0.537 AC XY: 389893AN XY: 726490
GnomAD4 genome AF: 0.563 AC: 85629AN: 151990Hom.: 24329 Cov.: 31 AF XY: 0.563 AC XY: 41792AN XY: 74266
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
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Autosomal dominant centronuclear myopathy Benign:1
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Charcot-Marie-Tooth disease dominant intermediate B Benign:1
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Fetal akinesia-cerebral and retinal hemorrhage syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at