rs7108752

Variant names:

• chr11-13218012-A-G
• rs7108752

Your query was ambiguous. Multiple possible variants found:

• chr11-13218012-A-G
• chr11-13218012-A-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 0.745 in 152,102 control chromosomes in the GnomAD database, including 42,525 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 0.75 (42525 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.744
• Publications: 3 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 (EAS) allele frequency at 95% confidence interval = 0.801 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: 0.745 AC: 113297 AN: 151984 Hom.: 42508 Cov.: 31

Gnomad AFR AF: 0.698

Gnomad AMI AF: 0.727

Gnomad AMR AF: 0.704

Gnomad ASJ AF: 0.743

Gnomad EAS AF: 0.821

Gnomad SAS AF: 0.780

Gnomad FIN AF: 0.697

Gnomad MID AF: 0.731

Gnomad NFE AF: 0.783

Gnomad OTH AF: 0.752

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

GnomAD4 genome AF: 0.745 AC: 113356 AN: 152102 Hom.: 42525 Cov.: 31 AF XY: 0.742 AC XY: 55181 AN XY: 74366

African (AFR) AF: 0.698 AC: 28943 AN: 41464

American (AMR) AF: 0.703 AC: 10747 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.743 AC: 2578 AN: 3470

East Asian (EAS) AF: 0.822 AC: 4259 AN: 5184

South Asian (SAS) AF: 0.777 AC: 3748 AN: 4822

European-Finnish (FIN) AF: 0.697 AC: 7374 AN: 10580

Middle Eastern (MID) AF: 0.721 AC: 212 AN: 294

European-Non Finnish (NFE) AF: 0.783 AC: 53242 AN: 67988

Other (OTH) AF: 0.755 AC: 1590 AN: 2106

Alfa AF: 0.770 Hom.: 24879

Bravo AF: 0.740

Asia WGS AF: 0.778 AC: 2706 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	0.76
DANN	Benign	0.62
PhyloP100		-0.74

Splicing

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

Other links and lift over

dbSNP: rs7108752; hg19: chr11-13239559;