rs1800265
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_ModerateBP6_ModerateBP7
The NM_004006.3(DMD):c.837G>T(p.Thr279=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000757 in 1,189,035 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. T279T) has been classified as Benign.
Frequency
Consequence
NM_004006.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DMD | NM_004006.3 | c.837G>T | p.Thr279= | synonymous_variant | 9/79 | ENST00000357033.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DMD | ENST00000357033.9 | c.837G>T | p.Thr279= | synonymous_variant | 9/79 | 1 | NM_004006.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000921 AC: 1AN: 108531Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 30971
GnomAD4 exome AF: 0.00000740 AC: 8AN: 1080504Hom.: 0 Cov.: 30 AF XY: 0.00000854 AC XY: 3AN XY: 351106
GnomAD4 genome ? AF: 0.00000921 AC: 1AN: 108531Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 30971
ClinVar
Submissions by phenotype
Duchenne muscular dystrophy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 17, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at