rs4758051

Positions:

• chr11-8217092-G-A
• chr11-8217092-G-C

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 0.429 in 152,084 control chromosomes in the GnomAD database, including 16,481 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 0.43 (16481 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0220

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.546 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: 0.430 AC: 65293 AN: 151968 Hom.: 16486 Cov.: 32

Gnomad AFR AF: 0.146

Gnomad AMI AF: 0.583

Gnomad AMR AF: 0.545

Gnomad ASJ AF: 0.533

Gnomad EAS AF: 0.419

Gnomad SAS AF: 0.472

Gnomad FIN AF: 0.525

Gnomad MID AF: 0.595

Gnomad NFE AF: 0.551

Gnomad OTH AF: 0.453

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

GnomAD4 genome AF: 0.429 AC: 65285 AN: 152084 Hom.: 16481 Cov.: 32 AF XY: 0.433 AC XY: 32158 AN XY: 74330

Gnomad4 AFR AF: 0.145

Gnomad4 AMR AF: 0.546

Gnomad4 ASJ AF: 0.533

Gnomad4 EAS AF: 0.419

Gnomad4 SAS AF: 0.471

Gnomad4 FIN AF: 0.525

Gnomad4 NFE AF: 0.551

Gnomad4 OTH AF: 0.450

Alfa AF: 0.533 Hom.: 43143

Bravo AF: 0.418

Asia WGS AF: 0.416 AC: 1449 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	6.0
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4758051; hg19: chr11-8238639;