rs2155225

chr11-76640853-A-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 0.603 in 151,850 control chromosomes in the GnomAD database, including 29,009 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 (29009 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.960

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.801 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.603 AC: 91490 AN: 151732 Hom.: 28963 Cov.: 33

Gnomad AFR AF: 0.808

Gnomad AMI AF: 0.620

Gnomad AMR AF: 0.447

Gnomad ASJ AF: 0.526

Gnomad EAS AF: 0.603

Gnomad SAS AF: 0.577

Gnomad FIN AF: 0.540

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.530

Gnomad OTH AF: 0.573

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

GnomAD4 genome AF: 0.603 AC: 91589 AN: 151850 Hom.: 29009 Cov.: 33 AF XY: 0.601 AC XY: 44618 AN XY: 74206

Gnomad4 AFR AF: 0.808

Gnomad4 AMR AF: 0.446

Gnomad4 ASJ AF: 0.526

Gnomad4 EAS AF: 0.604

Gnomad4 SAS AF: 0.577

Gnomad4 FIN AF: 0.540

Gnomad4 NFE AF: 0.530

Gnomad4 OTH AF: 0.574

Alfa AF: 0.576 Hom.: 3207

Bravo AF: 0.604

Asia WGS AF: 0.632 AC: 2199 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
Cadd	Benign	1.8
Dann	Benign	0.75

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2155225; hg19: chr11-76351897;