rs145765079
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_004393.6(DAG1):c.1233G>A(p.Val411Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00326 in 1,613,830 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004393.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DAG1 | NM_004393.6 | c.1233G>A | p.Val411Val | synonymous_variant | Exon 3 of 3 | ENST00000308775.7 | NP_004384.5 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00249 AC: 378AN: 151820Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00222 AC: 559AN: 251462Hom.: 1 AF XY: 0.00235 AC XY: 319AN XY: 135906
GnomAD4 exome AF: 0.00334 AC: 4884AN: 1461892Hom.: 10 Cov.: 33 AF XY: 0.00338 AC XY: 2456AN XY: 727248
GnomAD4 genome AF: 0.00249 AC: 378AN: 151938Hom.: 2 Cov.: 32 AF XY: 0.00234 AC XY: 174AN XY: 74272
ClinVar
Submissions by phenotype
not specified Benign:3
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not provided Benign:3
DAG1: BP4, BP7 -
This variant is associated with the following publications: (PMID: 25671699) -
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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9;C4511963:Autosomal recessive limb-girdle muscular dystrophy type 2P Benign:1
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DAG1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at