rs11986063

Variant names:

• chr8-116628076-C-T
• rs11986063

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 0.121 in 151,892 control chromosomes in the GnomAD database, including 1,322 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 0.12 (1322 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0860

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.188 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: 0.121 AC: 18400 AN: 151774 Hom.: 1323 Cov.: 31

Gnomad AFR AF: 0.192

Gnomad AMI AF: 0.0735

Gnomad AMR AF: 0.0741

Gnomad ASJ AF: 0.179

Gnomad EAS AF: 0.0716

Gnomad SAS AF: 0.138

Gnomad FIN AF: 0.119

Gnomad MID AF: 0.184

Gnomad NFE AF: 0.0897

Gnomad OTH AF: 0.110

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

GnomAD4 genome AF: 0.121 AC: 18417 AN: 151892 Hom.: 1322 Cov.: 31 AF XY: 0.123 AC XY: 9103 AN XY: 74234

Gnomad4 AFR AF: 0.191

Gnomad4 AMR AF: 0.0739

Gnomad4 ASJ AF: 0.179

Gnomad4 EAS AF: 0.0720

Gnomad4 SAS AF: 0.138

Gnomad4 FIN AF: 0.119

Gnomad4 NFE AF: 0.0897

Gnomad4 OTH AF: 0.111

Alfa AF: 0.0951 Hom.: 1100

Bravo AF: 0.119

Asia WGS AF: 0.129 AC: 449 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	5.9
DANN	Benign	0.57

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11986063; hg19: chr8-117640315;