rs11786333

Variant names:

• chr8-5111892-G-A
• rs11786333

Your query was ambiguous. Multiple possible variants found:

• chr8-5111892-G-A
• chr8-5111892-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 0.0953 in 151,780 control chromosomes in the GnomAD database, including 696 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 0.095 (696 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.104

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.112 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: 0.0954 AC: 14461 AN: 151662 Hom.: 695 Cov.: 31

Gnomad AFR AF: 0.0809

Gnomad AMI AF: 0.0844

Gnomad AMR AF: 0.0786

Gnomad ASJ AF: 0.118

Gnomad EAS AF: 0.0182

Gnomad SAS AF: 0.0949

Gnomad FIN AF: 0.0840

Gnomad MID AF: 0.0860

Gnomad NFE AF: 0.114

Gnomad OTH AF: 0.0981

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

GnomAD4 genome AF: 0.0953 AC: 14471 AN: 151780 Hom.: 696 Cov.: 31 AF XY: 0.0929 AC XY: 6891 AN XY: 74168

Gnomad4 AFR AF: 0.0810

Gnomad4 AMR AF: 0.0785

Gnomad4 ASJ AF: 0.118

Gnomad4 EAS AF: 0.0183

Gnomad4 SAS AF: 0.0946

Gnomad4 FIN AF: 0.0840

Gnomad4 NFE AF: 0.114

Gnomad4 OTH AF: 0.0990

Alfa AF: 0.107 Hom.: 1248

Bravo AF: 0.0998

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.93
DANN	Benign	0.83

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11786333; hg19: chr8-4969414;