1-85348869-A-G

Position:

• chr1-85348869-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_012137.4(DDAH1):​c.597+1546T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.702 in 152,094 control chromosomes in the GnomAD database, including 37,532 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 0.70 (37532 hom., cov: 32)
• Consequence: DDAH1 NM_012137.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0790

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]

BCL10-AS1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.818 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DDAH1	NM_012137.4	c.597+1546T>C		intron_variant		ENST00000284031.13	NP_036269.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DDAH1	ENST00000284031.13	c.597+1546T>C		intron_variant		1	NM_012137.4	ENSP00000284031.8

Frequencies

GnomAD3 genomes AF: 0.702 AC: 106672 AN: 151976 Hom.: 37503 Cov.: 32

Gnomad AFR AF: 0.678

Gnomad AMI AF: 0.666

Gnomad AMR AF: 0.706

Gnomad ASJ AF: 0.677

Gnomad EAS AF: 0.666

Gnomad SAS AF: 0.839

Gnomad FIN AF: 0.707

Gnomad MID AF: 0.728

Gnomad NFE AF: 0.710

Gnomad OTH AF: 0.690

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

GnomAD4 genome AF: 0.702 AC: 106748 AN: 152094 Hom.: 37532 Cov.: 32 AF XY: 0.705 AC XY: 52447 AN XY: 74350

Gnomad4 AFR AF: 0.678

Gnomad4 AMR AF: 0.705

Gnomad4 ASJ AF: 0.677

Gnomad4 EAS AF: 0.665

Gnomad4 SAS AF: 0.840

Gnomad4 FIN AF: 0.707

Gnomad4 NFE AF: 0.710

Gnomad4 OTH AF: 0.694

Alfa AF: 0.704 Hom.: 4695

Bravo AF: 0.696

Asia WGS AF: 0.730 AC: 2533 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.2
DANN	Benign	0.83

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs233080; hg19: chr1-85814552;