11-1611181-A-G

Position:

• chr11-1611181-A-G

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;