rs751221923
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_004006.3(DMD):c.5531G>A(p.Arg1844Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000133 in 1,207,338 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 9 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1844S) has been classified as Likely benign.
Frequency
Consequence
NM_004006.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DMD | NM_004006.3 | c.5531G>A | p.Arg1844Gln | missense_variant | 39/79 | ENST00000357033.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DMD | ENST00000357033.9 | c.5531G>A | p.Arg1844Gln | missense_variant | 39/79 | 1 | NM_004006.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000902 AC: 1AN: 110922Hom.: 0 Cov.: 23 AF XY: 0.0000301 AC XY: 1AN XY: 33208
GnomAD3 exomes AF: 0.0000110 AC: 2AN: 182420Hom.: 0 AF XY: 0.0000298 AC XY: 2AN XY: 67210
GnomAD4 exome AF: 0.0000137 AC: 15AN: 1096416Hom.: 0 Cov.: 30 AF XY: 0.0000221 AC XY: 8AN XY: 362402
GnomAD4 genome ? AF: 0.00000902 AC: 1AN: 110922Hom.: 0 Cov.: 23 AF XY: 0.0000301 AC XY: 1AN XY: 33208
ClinVar
Submissions by phenotype
Duchenne muscular dystrophy;C0878544:Cardiomyopathy;C0917713:Becker muscular dystrophy;na:Dystrophin deficiency Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Mar 02, 2020 | - - |
Cardiovascular phenotype Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 30, 2018 | The p.R1844Q variant (also known as c.5531G>A), located in coding exon 39 of the DMD gene, results from a G to A substitution at nucleotide position 5531. The arginine at codon 1844 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. - |
Duchenne muscular dystrophy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 28, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at