chr11-1156726-A-G

Variant names:

• chr11-1156726-A-G
• rs17859811

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.705 in 152,056 control chromosomes in the GnomAD database, including 39,908 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 0.71 (39908 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.39
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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 = 0.83 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: 0.706 AC: 107207 AN: 151938 Hom.: 39916 Cov.: 32

Gnomad AFR AF: 0.470

Gnomad AMI AF: 0.856

Gnomad AMR AF: 0.638

Gnomad ASJ AF: 0.845

Gnomad EAS AF: 0.698

Gnomad SAS AF: 0.622

Gnomad FIN AF: 0.863

Gnomad MID AF: 0.785

Gnomad NFE AF: 0.836

Gnomad OTH AF: 0.730

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

GnomAD4 genome AF: 0.705 AC: 107213 AN: 152056 Hom.: 39908 Cov.: 32 AF XY: 0.702 AC XY: 52168 AN XY: 74324

African (AFR) AF: 0.470 AC: 19459 AN: 41438

American (AMR) AF: 0.637 AC: 9738 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.845 AC: 2932 AN: 3470

East Asian (EAS) AF: 0.697 AC: 3593 AN: 5154

South Asian (SAS) AF: 0.621 AC: 2992 AN: 4818

European-Finnish (FIN) AF: 0.863 AC: 9148 AN: 10596

Middle Eastern (MID) AF: 0.793 AC: 233 AN: 294

European-Non Finnish (NFE) AF: 0.836 AC: 56808 AN: 67986

Other (OTH) AF: 0.725 AC: 1531 AN: 2112

Alfa AF: 0.774 Hom.: 105497

Bravo AF: 0.682

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.070
PhyloP100		-2.4

Splicing

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

Other links and lift over

dbSNP: rs17859811; hg19: chr11-1150353;