rs1841043

Variant names:

• chr4-68843000-G-A
• rs1841043

Your query was ambiguous. Multiple possible variants found:

• chr4-68843000-G-A
• chr4-68843000-G-C
• chr4-68843000-G-T

Variant summary

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

The variant allele was found at a frequency of 0.646 in 151,762 control chromosomes in the GnomAD database, including 32,826 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 0.65 (32826 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.137
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.755 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.646 AC: 98035 AN: 151644 Hom.: 32809 Cov.: 30

Gnomad AFR AF: 0.476

Gnomad AMI AF: 0.766

Gnomad AMR AF: 0.591

Gnomad ASJ AF: 0.672

Gnomad EAS AF: 0.546

Gnomad SAS AF: 0.735

Gnomad FIN AF: 0.652

Gnomad MID AF: 0.662

Gnomad NFE AF: 0.760

Gnomad OTH AF: 0.635

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

GnomAD4 genome AF: 0.646 AC: 98100 AN: 151762 Hom.: 32826 Cov.: 30 AF XY: 0.641 AC XY: 47482 AN XY: 74128

African (AFR) AF: 0.477 AC: 19712 AN: 41366

American (AMR) AF: 0.591 AC: 9004 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.672 AC: 2328 AN: 3464

East Asian (EAS) AF: 0.546 AC: 2800 AN: 5124

South Asian (SAS) AF: 0.735 AC: 3540 AN: 4816

European-Finnish (FIN) AF: 0.652 AC: 6885 AN: 10556

Middle Eastern (MID) AF: 0.688 AC: 201 AN: 292

European-Non Finnish (NFE) AF: 0.760 AC: 51593 AN: 67884

Other (OTH) AF: 0.636 AC: 1340 AN: 2108

Alfa AF: 0.706 Hom.: 96024

Bravo AF: 0.630

Asia WGS AF: 0.647 AC: 2251 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	5.4
DANN	Benign	0.54
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs1841043; hg19: chr4-69708718;