rs7120482

Variant names:

• chr11-93058934-G-A
• rs7120482

Your query was ambiguous. Multiple possible variants found:

• chr11-93058934-G-A
• chr11-93058934-G-C
• chr11-93058934-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 0.225 in 152,176 control chromosomes in the GnomAD database, including 4,686 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 0.23 (4686 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.825
• Publications: 15 publications found

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 (NFE) allele frequency at 95% confidence interval = 0.306 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: 0.225 AC: 34270 AN: 152058 Hom.: 4688 Cov.: 33

Gnomad AFR AF: 0.0926

Gnomad AMI AF: 0.240

Gnomad AMR AF: 0.203

Gnomad ASJ AF: 0.358

Gnomad EAS AF: 0.0223

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.314

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.310

Gnomad OTH AF: 0.236

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

GnomAD4 genome AF: 0.225 AC: 34259 AN: 152176 Hom.: 4686 Cov.: 33 AF XY: 0.222 AC XY: 16513 AN XY: 74394

African (AFR) AF: 0.0924 AC: 3838 AN: 41536

American (AMR) AF: 0.203 AC: 3099 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.358 AC: 1242 AN: 3468

East Asian (EAS) AF: 0.0222 AC: 115 AN: 5180

South Asian (SAS) AF: 0.165 AC: 794 AN: 4810

European-Finnish (FIN) AF: 0.314 AC: 3315 AN: 10572

Middle Eastern (MID) AF: 0.248 AC: 73 AN: 294

European-Non Finnish (NFE) AF: 0.310 AC: 21064 AN: 67990

Other (OTH) AF: 0.237 AC: 501 AN: 2114

Alfa AF: 0.260 Hom.: 8561

Bravo AF: 0.211

Asia WGS AF: 0.0990 AC: 345 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.061
DANN	Benign	0.58
PhyloP100		-0.82

Splicing

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

Other links and lift over

dbSNP: rs7120482; hg19: chr11-92792100;