rs7941541

Variant names:

• chr11-86147496-G-A
• rs7941541

Your query was ambiguous. Multiple possible variants found:

• chr11-86147496-G-A
• chr11-86147496-G-C

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 0.728 in 152,132 control chromosomes in the GnomAD database, including 40,932 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 0.73 (40932 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0180
• Publications: 23 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.862 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: 0.728 AC: 110645 AN: 152012 Hom.: 40890 Cov.: 32

Gnomad AFR AF: 0.869

Gnomad AMI AF: 0.599

Gnomad AMR AF: 0.669

Gnomad ASJ AF: 0.692

Gnomad EAS AF: 0.590

Gnomad SAS AF: 0.653

Gnomad FIN AF: 0.654

Gnomad MID AF: 0.649

Gnomad NFE AF: 0.686

Gnomad OTH AF: 0.724

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

GnomAD4 genome AF: 0.728 AC: 110744 AN: 152132 Hom.: 40932 Cov.: 32 AF XY: 0.724 AC XY: 53806 AN XY: 74364

African (AFR) AF: 0.870 AC: 36092 AN: 41504

American (AMR) AF: 0.668 AC: 10208 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.692 AC: 2401 AN: 3470

East Asian (EAS) AF: 0.589 AC: 3051 AN: 5176

South Asian (SAS) AF: 0.654 AC: 3152 AN: 4820

European-Finnish (FIN) AF: 0.654 AC: 6911 AN: 10564

Middle Eastern (MID) AF: 0.656 AC: 193 AN: 294

European-Non Finnish (NFE) AF: 0.686 AC: 46662 AN: 67998

Other (OTH) AF: 0.723 AC: 1529 AN: 2114

Alfa AF: 0.698 Hom.: 69652

Bravo AF: 0.734

Asia WGS AF: 0.611 AC: 2124 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.3
DANN	Benign	0.40
PhyloP100		-0.018

Splicing

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

Other links and lift over

dbSNP: rs7941541; hg19: chr11-85858538;