rs139726281
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000357033.9(DMD):c.2386G>T(p.Val796Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000249 in 1,206,379 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. 11/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V796I) has been classified as Likely benign.
Frequency
Consequence
ENST00000357033.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DMD | NM_004006.3 | c.2386G>T | p.Val796Phe | missense_variant | 20/79 | ENST00000357033.9 | NP_003997.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DMD | ENST00000357033.9 | c.2386G>T | p.Val796Phe | missense_variant | 20/79 | 1 | NM_004006.3 | ENSP00000354923 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00000893 AC: 1AN: 111957Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34149
GnomAD3 exomes AF: 0.00000566 AC: 1AN: 176544Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 61670
GnomAD4 exome AF: 0.00000183 AC: 2AN: 1094422Hom.: 0 Cov.: 30 AF XY: 0.00000278 AC XY: 1AN XY: 360022
GnomAD4 genome AF: 0.00000893 AC: 1AN: 111957Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34149
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at