rs72468632
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_004006.3(DMD):c.5040C>T(p.His1680His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000414 in 1,206,994 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 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).
Frequency
Consequence
NM_004006.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DMD | ENST00000357033.9 | c.5040C>T | p.His1680His | synonymous_variant | Exon 36 of 79 | 1 | NM_004006.3 | ENSP00000354923.3 |
Frequencies
GnomAD3 genomes AF: 0.00000896 AC: 1AN: 111553Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33753
GnomAD3 exomes AF: 0.00000547 AC: 1AN: 182913Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67539
GnomAD4 exome AF: 0.00000365 AC: 4AN: 1095441Hom.: 0 Cov.: 29 AF XY: 0.00000277 AC XY: 1AN XY: 361069
GnomAD4 genome AF: 0.00000896 AC: 1AN: 111553Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33753
ClinVar
Submissions by phenotype
not provided Uncertain:1
- -
Duchenne muscular dystrophy;C0878544:Cardiomyopathy;C0917713:Becker muscular dystrophy;na:Dystrophin deficiency Benign:1
- -
Duchenne muscular dystrophy Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at