X-32390119-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_004006.3(DMD):c.4296G>A(p.Gln1432=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000331 in 1,209,220 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_004006.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DMD | NM_004006.3 | c.4296G>A | p.Gln1432= | synonymous_variant | 31/79 | ENST00000357033.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DMD | ENST00000357033.9 | c.4296G>A | p.Gln1432= | synonymous_variant | 31/79 | 1 | NM_004006.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000893 AC: 1AN: 111965Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34117
GnomAD3 exomes AF: 0.0000164 AC: 3AN: 182711Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67443
GnomAD4 exome AF: 0.00000273 AC: 3AN: 1097201Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 362707
GnomAD4 genome AF: 0.00000893 AC: 1AN: 112019Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34181
ClinVar
Submissions by phenotype
Duchenne muscular dystrophy;C0878544:Cardiomyopathy;C0917713:Becker muscular dystrophy;na:Dystrophin deficiency Benign:1
Likely benign, no assertion criteria provided | clinical testing | Natera, Inc. | Dec 13, 2020 | - - |
Duchenne muscular dystrophy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 24, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at