chr11-2207782-G-A

Variant names:

• chr11-2207782-G-A
• rs7114836

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 0.741 in 152,162 control chromosomes in the GnomAD database, including 42,557 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 0.74 (42557 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0740
• Publications: 17 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.87 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: 0.741 AC: 112669 AN: 152044 Hom.: 42559 Cov.: 34

Gnomad AFR AF: 0.586

Gnomad AMI AF: 0.764

Gnomad AMR AF: 0.747

Gnomad ASJ AF: 0.770

Gnomad EAS AF: 0.891

Gnomad SAS AF: 0.776

Gnomad FIN AF: 0.747

Gnomad MID AF: 0.810

Gnomad NFE AF: 0.816

Gnomad OTH AF: 0.781

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

GnomAD4 genome AF: 0.741 AC: 112706 AN: 152162 Hom.: 42557 Cov.: 34 AF XY: 0.741 AC XY: 55139 AN XY: 74392

African (AFR) AF: 0.585 AC: 24279 AN: 41482

American (AMR) AF: 0.746 AC: 11409 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.770 AC: 2675 AN: 3472

East Asian (EAS) AF: 0.892 AC: 4616 AN: 5176

South Asian (SAS) AF: 0.776 AC: 3747 AN: 4828

European-Finnish (FIN) AF: 0.747 AC: 7893 AN: 10572

Middle Eastern (MID) AF: 0.813 AC: 239 AN: 294

European-Non Finnish (NFE) AF: 0.816 AC: 55495 AN: 68018

Other (OTH) AF: 0.783 AC: 1656 AN: 2116

Alfa AF: 0.802 Hom.: 21215

Bravo AF: 0.732

Asia WGS AF: 0.800 AC: 2781 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	2.1
DANN	Benign	0.56
PhyloP100		0.074

Splicing

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

Other links and lift over

dbSNP: rs7114836; hg19: chr11-2229012;