rs2419050

Variant names:

• chr1-67857777-A-G
• rs2419050
• ENST00000413628.5:n.128+25341A>G

Variant summary

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

The ENST00000413628.5(GNG12-AS1):​n.128+25341A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.562 in 151,998 control chromosomes in the GnomAD database, including 24,510 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 0.56 (24510 hom., cov: 32)
• Consequence: GNG12-AS1 ENST00000413628.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.424
• Publications: 2 publications found

Genes affected

GNG12-AS1 (HGNC:43938): (GNG12, DIRAS3 and WLS antisense RNA 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.668 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000413628.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GNG12-AS1	NR_040077.1		n.149+25341A>G		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	GNG12-AS1	ENST00000413628.5	TSL:2	n.128+25341A>G		intron	N/A
	GNG12-AS1	ENST00000420587.5	TSL:2	n.134+25341A>G		intron	N/A
	GNG12-AS1	ENST00000688125.3		n.245-15375A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.562 AC: 85382 AN: 151882 Hom.: 24497 Cov.: 32

Gnomad AFR AF: 0.446

Gnomad AMI AF: 0.476

Gnomad AMR AF: 0.679

Gnomad ASJ AF: 0.699

Gnomad EAS AF: 0.602

Gnomad SAS AF: 0.562

Gnomad FIN AF: 0.475

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.609

Gnomad OTH AF: 0.610

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

GnomAD4 genome AF: 0.562 AC: 85427 AN: 151998 Hom.: 24510 Cov.: 32 AF XY: 0.561 AC XY: 41653 AN XY: 74300

African (AFR) AF: 0.446 AC: 18486 AN: 41430

American (AMR) AF: 0.679 AC: 10368 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.699 AC: 2423 AN: 3468

East Asian (EAS) AF: 0.602 AC: 3110 AN: 5168

South Asian (SAS) AF: 0.563 AC: 2708 AN: 4814

European-Finnish (FIN) AF: 0.475 AC: 5022 AN: 10566

Middle Eastern (MID) AF: 0.687 AC: 202 AN: 294

European-Non Finnish (NFE) AF: 0.609 AC: 41404 AN: 67962

Other (OTH) AF: 0.602 AC: 1270 AN: 2108

Alfa AF: 0.580 Hom.: 5382

Bravo AF: 0.572

Asia WGS AF: 0.563 AC: 1957 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	4.0
DANN	Benign	0.47
PhyloP100		0.42

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs2419050;

hg19: chr1-68323460;