rs372284841
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The ENST00000378723.7(DMD):c.1846G>A(p.Asp616Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000116 in 1,206,300 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 5 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 9/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000378723.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DMD | NM_004006.3 | c.*24G>A | 3_prime_UTR_variant | 79/79 | ENST00000357033.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DMD | ENST00000357033.9 | c.*24G>A | 3_prime_UTR_variant | 79/79 | 1 | NM_004006.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000625 AC: 7AN: 112073Hom.: 0 Cov.: 24 AF XY: 0.000116 AC XY: 4AN XY: 34477
GnomAD3 exomes AF: 0.0000219 AC: 4AN: 182562Hom.: 0 AF XY: 0.0000297 AC XY: 2AN XY: 67280
GnomAD4 exome AF: 0.00000640 AC: 7AN: 1094174Hom.: 0 Cov.: 28 AF XY: 0.00000277 AC XY: 1AN XY: 360502
GnomAD4 genome AF: 0.0000624 AC: 7AN: 112126Hom.: 0 Cov.: 24 AF XY: 0.000116 AC XY: 4AN XY: 34540
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Jun 10, 2016 | The p.Asp1224Asn variant in DMD has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/8503 African chromosomes, incl uding one hemizygote, by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs372284841). Computational prediction tools and conserva tion analysis are limited or unavailable for this variant. In summary, the clini cal significance of the p.Asp1224Asn variant is uncertain. - |
Duchenne muscular dystrophy;C0878544:Cardiomyopathy;C0917713:Becker muscular dystrophy;na:Dystrophin deficiency Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | May 03, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at