rs1403951
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000426972.8(DDAH1):c.-7+21600G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.495 in 151,924 control chromosomes in the GnomAD database, including 18,536 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.49 ( 18536 hom., cov: 31)
Consequence
DDAH1
ENST00000426972.8 intron
ENST00000426972.8 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.248
Genes affected
DDAH1 (HGNC:2715): (dimethylarginine dimethylaminohydrolase 1) This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.542 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DDAH1 | NM_001134445.2 | c.-7+21600G>T | intron_variant | ||||
DDAH1 | XM_005270707.3 | c.18+103418G>T | intron_variant | ||||
DDAH1 | XM_011541158.2 | c.-87+21600G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDAH1 | ENST00000426972.8 | c.-7+21600G>T | intron_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.495 AC: 75101AN: 151806Hom.: 18525 Cov.: 31
GnomAD3 genomes
?
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151806
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31
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.495 AC: 75151AN: 151924Hom.: 18536 Cov.: 31 AF XY: 0.494 AC XY: 36685AN XY: 74250
GnomAD4 genome
?
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75151
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151924
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31
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36685
AN XY:
74250
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1406
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at