rs10768666

Variant names:

• chr11-1611181-A-G
• rs10768666

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 0.0894 in 151,792 control chromosomes in the GnomAD database, including 680 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 0.089 (680 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.863

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 (EAS) allele frequency at 95% confidence interval = 0.118 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: 0.0893 AC: 13549 AN: 151674 Hom.: 681 Cov.: 31

Gnomad AFR AF: 0.110

Gnomad AMI AF: 0.0680

Gnomad AMR AF: 0.0705

Gnomad ASJ AF: 0.101

Gnomad EAS AF: 0.126

Gnomad SAS AF: 0.0855

Gnomad FIN AF: 0.0614

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0830

Gnomad OTH AF: 0.0776

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

GnomAD4 genome AF: 0.0894 AC: 13569 AN: 151792 Hom.: 680 Cov.: 31 AF XY: 0.0880 AC XY: 6525 AN XY: 74186

Gnomad4 AFR AF: 0.110

Gnomad4 AMR AF: 0.0707

Gnomad4 ASJ AF: 0.101

Gnomad4 EAS AF: 0.126

Gnomad4 SAS AF: 0.0858

Gnomad4 FIN AF: 0.0614

Gnomad4 NFE AF: 0.0831

Gnomad4 OTH AF: 0.0768

Alfa AF: 0.0857 Hom.: 82

Bravo AF: 0.0910

Asia WGS AF: 0.111 AC: 385 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.7
DANN	Benign	0.22

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10768666; hg19: chr11-1632411;