rs376234802
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_004006.3(DMD):āc.5230A>Gā(p.Asn1744Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00000414 in 1,208,381 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_004006.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DMD | ENST00000357033.9 | c.5230A>G | p.Asn1744Asp | missense_variant | Exon 37 of 79 | 1 | NM_004006.3 | ENSP00000354923.3 |
Frequencies
GnomAD3 genomes AF: 0.0000270 AC: 3AN: 111010Hom.: 0 Cov.: 22 AF XY: 0.0000301 AC XY: 1AN XY: 33206
GnomAD3 exomes AF: 0.00000546 AC: 1AN: 183255Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67759
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1097371Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 363135
GnomAD4 genome AF: 0.0000270 AC: 3AN: 111010Hom.: 0 Cov.: 22 AF XY: 0.0000301 AC XY: 1AN XY: 33206
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
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Cardiovascular phenotype Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Duchenne muscular dystrophy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at