rs6841581

Variant names:

• chr4-147480038-G-A
• rs6841581

Your query was ambiguous. Multiple possible variants found:

• chr4-147480038-G-A
• chr4-147480038-G-C
• chr4-147480038-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 0.182 in 152,048 control chromosomes in the GnomAD database, including 2,789 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 0.18 (2789 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.60
• Publications: 61 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.268 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: 0.182 AC: 27688 AN: 151930 Hom.: 2784 Cov.: 32

Gnomad AFR AF: 0.272

Gnomad AMI AF: 0.158

Gnomad AMR AF: 0.139

Gnomad ASJ AF: 0.188

Gnomad EAS AF: 0.223

Gnomad SAS AF: 0.203

Gnomad FIN AF: 0.148

Gnomad MID AF: 0.215

Gnomad NFE AF: 0.138

Gnomad OTH AF: 0.167

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

GnomAD4 genome AF: 0.182 AC: 27720 AN: 152048 Hom.: 2789 Cov.: 32 AF XY: 0.182 AC XY: 13526 AN XY: 74314

African (AFR) AF: 0.272 AC: 11287 AN: 41456

American (AMR) AF: 0.139 AC: 2129 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.188 AC: 651 AN: 3466

East Asian (EAS) AF: 0.223 AC: 1146 AN: 5144

South Asian (SAS) AF: 0.203 AC: 975 AN: 4808

European-Finnish (FIN) AF: 0.148 AC: 1569 AN: 10598

Middle Eastern (MID) AF: 0.197 AC: 58 AN: 294

European-Non Finnish (NFE) AF: 0.138 AC: 9408 AN: 67980

Other (OTH) AF: 0.167 AC: 353 AN: 2110

Alfa AF: 0.159 Hom.: 3438

Bravo AF: 0.188

Asia WGS AF: 0.239 AC: 829 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	0.32
DANN	Benign	0.81
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs6841581; hg19: chr4-148401190;