rs2807278

Positions:

• chr6-131488780-T-C

Variant summary

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

The ENST00000672233.1(ARG1):​c.-43+17831T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.311 in 152,054 control chromosomes in the GnomAD database, including 7,676 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 0.31 (7676 hom., cov: 32)
• Consequence: ARG1 ENST00000672233.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.332

Genes affected

ARG1 (HGNC:663): (arginase 1) Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.374 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.131488780T>C		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ARG1	ENST00000672233.1	c.-43+17831T>C		intron_variant				ENSP00000499826.1
ARG1	ENST00000672052.1	n.118+17831T>C		intron_variant
ARG1	ENST00000673234.1	n.-43+17831T>C		intron_variant				ENSP00000499885.1

Frequencies

GnomAD3 genomes AF: 0.311 AC: 47207 AN: 151936 Hom.: 7665 Cov.: 32

Gnomad AFR AF: 0.379

Gnomad AMI AF: 0.477

Gnomad AMR AF: 0.356

Gnomad ASJ AF: 0.262

Gnomad EAS AF: 0.150

Gnomad SAS AF: 0.284

Gnomad FIN AF: 0.291

Gnomad MID AF: 0.361

Gnomad NFE AF: 0.277

Gnomad OTH AF: 0.298

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

GnomAD4 genome AF: 0.311 AC: 47250 AN: 152054 Hom.: 7676 Cov.: 32 AF XY: 0.311 AC XY: 23114 AN XY: 74324

Gnomad4 AFR AF: 0.379

Gnomad4 AMR AF: 0.356

Gnomad4 ASJ AF: 0.262

Gnomad4 EAS AF: 0.150

Gnomad4 SAS AF: 0.284

Gnomad4 FIN AF: 0.291

Gnomad4 NFE AF: 0.277

Gnomad4 OTH AF: 0.296

Alfa AF: 0.278 Hom.: 13472

Bravo AF: 0.319

Asia WGS AF: 0.199 AC: 693 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.0
DANN	Benign	0.78

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2807278; hg19: chr6-131809920;