1-85473592-G-A

Variant names:

• chr1-85473592-G-A
• rs10782551
• ENST00000426972.8:c.-7+22574C>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000426972.8(DDAH1):​c.-7+22574C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0798 in 151,700 control chromosomes in the GnomAD database, including 562 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 0.080 (562 hom., cov: 32)
• Consequence: DDAH1 ENST00000426972.8 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0930
• Publications: 2 publications found

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]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.224 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000426972.8. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DDAH1	NM_001134445.2		c.-7+22574C>T		intron	N/A	NP_001127917.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DDAH1	ENST00000426972.8	TSL:1	c.-7+22574C>T		intron	N/A	ENSP00000411189.4

Frequencies

GnomAD3 genomes AF: 0.0798 AC: 12094 AN: 151582 Hom.: 560 Cov.: 32

Gnomad AFR AF: 0.0935

Gnomad AMI AF: 0.0471

Gnomad AMR AF: 0.0464

Gnomad ASJ AF: 0.0349

Gnomad EAS AF: 0.236

Gnomad SAS AF: 0.134

Gnomad FIN AF: 0.106

Gnomad MID AF: 0.0601

Gnomad NFE AF: 0.0624

Gnomad OTH AF: 0.0669

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0798 AC: 12101 AN: 151700 Hom.: 562 Cov.: 32 AF XY: 0.0830 AC XY: 6153 AN XY: 74130

African (AFR) AF: 0.0936 AC: 3877 AN: 41442

American (AMR) AF: 0.0463 AC: 706 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.0349 AC: 121 AN: 3468

East Asian (EAS) AF: 0.235 AC: 1210 AN: 5154

South Asian (SAS) AF: 0.134 AC: 643 AN: 4804

European-Finnish (FIN) AF: 0.106 AC: 1108 AN: 10502

Middle Eastern (MID) AF: 0.0612 AC: 18 AN: 294

European-Non Finnish (NFE) AF: 0.0624 AC: 4232 AN: 67782

Other (OTH) AF: 0.0681 AC: 143 AN: 2100

Alfa AF: 0.0649 Hom.: 1044

Bravo AF: 0.0761

Asia WGS AF: 0.178 AC: 622 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	5.5
DANN	Benign	0.81
PhyloP100		0.093
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs10782551; hg19: chr1-85939275;