rs7122785

Variant names:

• chr11-119351996-G-A
• rs7122785

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 0.681 in 152,034 control chromosomes in the GnomAD database, including 35,918 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 0.68 (35918 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.07
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.826 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: 0.681 AC: 103522 AN: 151916 Hom.: 35889 Cov.: 32

Gnomad AFR AF: 0.565

Gnomad AMI AF: 0.819

Gnomad AMR AF: 0.621

Gnomad ASJ AF: 0.702

Gnomad EAS AF: 0.847

Gnomad SAS AF: 0.780

Gnomad FIN AF: 0.788

Gnomad MID AF: 0.799

Gnomad NFE AF: 0.726

Gnomad OTH AF: 0.686

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

GnomAD4 genome AF: 0.681 AC: 103592 AN: 152034 Hom.: 35918 Cov.: 32 AF XY: 0.687 AC XY: 51072 AN XY: 74306

African (AFR) AF: 0.565 AC: 23431 AN: 41452

American (AMR) AF: 0.622 AC: 9493 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.702 AC: 2436 AN: 3470

East Asian (EAS) AF: 0.847 AC: 4365 AN: 5154

South Asian (SAS) AF: 0.780 AC: 3765 AN: 4830

European-Finnish (FIN) AF: 0.788 AC: 8341 AN: 10586

Middle Eastern (MID) AF: 0.805 AC: 235 AN: 292

European-Non Finnish (NFE) AF: 0.726 AC: 49331 AN: 67958

Other (OTH) AF: 0.687 AC: 1448 AN: 2108

Alfa AF: 0.714 Hom.: 148173

Bravo AF: 0.668

Asia WGS AF: 0.798 AC: 2773 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.035
DANN	Benign	0.50
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs7122785; hg19: chr11-119222706;