rs777178221
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_ModerateBP6_Very_StrongBS2
The NM_004006.3(DMD):āc.7781A>Gā(p.Gln2594Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000347 in 1,210,572 control chromosomes in the GnomAD database, including 1 homozygotes. There are 14 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. Q2594Q) 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 -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DMD | NM_004006.3 | c.7781A>G | p.Gln2594Arg | missense_variant | 53/79 | ENST00000357033.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DMD | ENST00000357033.9 | c.7781A>G | p.Gln2594Arg | missense_variant | 53/79 | 1 | NM_004006.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000444 AC: 5AN: 112551Hom.: 0 Cov.: 23 AF XY: 0.0000288 AC XY: 1AN XY: 34691
GnomAD3 exomes AF: 0.0000547 AC: 10AN: 182957Hom.: 0 AF XY: 0.0000296 AC XY: 2AN XY: 67473
GnomAD4 exome AF: 0.0000337 AC: 37AN: 1098021Hom.: 1 Cov.: 30 AF XY: 0.0000358 AC XY: 13AN XY: 363389
GnomAD4 genome ? AF: 0.0000444 AC: 5AN: 112551Hom.: 0 Cov.: 23 AF XY: 0.0000288 AC XY: 1AN XY: 34691
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. | Oct 06, 2020 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2023 | DMD: BP4, BS2 - |
Duchenne muscular dystrophy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 20, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at