rs2155222

Variant names:

• chr11-76642761-G-A
• rs2155222

Your query was ambiguous. Multiple possible variants found:

• chr11-76642761-G-A
• chr11-76642761-G-C
• chr11-76642761-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 0.601 in 151,978 control chromosomes in the GnomAD database, including 28,899 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 0.60 (28899 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.350
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.803 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.601 AC: 91267 AN: 151858 Hom.: 28850 Cov.: 32

Gnomad AFR AF: 0.810

Gnomad AMI AF: 0.621

Gnomad AMR AF: 0.448

Gnomad ASJ AF: 0.522

Gnomad EAS AF: 0.597

Gnomad SAS AF: 0.597

Gnomad FIN AF: 0.511

Gnomad MID AF: 0.606

Gnomad NFE AF: 0.528

Gnomad OTH AF: 0.570

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

GnomAD4 genome AF: 0.601 AC: 91369 AN: 151978 Hom.: 28899 Cov.: 32 AF XY: 0.599 AC XY: 44503 AN XY: 74268

African (AFR) AF: 0.810 AC: 33597 AN: 41486

American (AMR) AF: 0.447 AC: 6822 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.522 AC: 1810 AN: 3468

East Asian (EAS) AF: 0.598 AC: 3096 AN: 5176

South Asian (SAS) AF: 0.598 AC: 2874 AN: 4808

European-Finnish (FIN) AF: 0.511 AC: 5382 AN: 10528

Middle Eastern (MID) AF: 0.596 AC: 174 AN: 292

European-Non Finnish (NFE) AF: 0.528 AC: 35842 AN: 67942

Other (OTH) AF: 0.571 AC: 1208 AN: 2114

Alfa AF: 0.530 Hom.: 7862

Bravo AF: 0.603

Asia WGS AF: 0.634 AC: 2208 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	2.4
DANN	Benign	0.24
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs2155222; hg19: chr11-76353805;