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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.601 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

Gnomad4 AFR AF: 0.810

Gnomad4 AMR AF: 0.447

Gnomad4 ASJ AF: 0.522

Gnomad4 EAS AF: 0.598

Gnomad4 SAS AF: 0.598

Gnomad4 FIN AF: 0.511

Gnomad4 NFE AF: 0.528

Gnomad4 OTH AF: 0.571

Alfa AF: 0.523 Hom.: 6029

Bravo AF: 0.603

Asia WGS AF: 0.634 AC: 2208 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2155222; hg19: chr11-76353805;