11-92166970-C-G

Variant names:

• chr11-92166970-C-G
• rs7116144

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 0.566 in 151,804 control chromosomes in the GnomAD database, including 24,579 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 0.57 (24579 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0170
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.726 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: 0.566 AC: 85797 AN: 151686 Hom.: 24548 Cov.: 31

Gnomad AFR AF: 0.564

Gnomad AMI AF: 0.646

Gnomad AMR AF: 0.611

Gnomad ASJ AF: 0.549

Gnomad EAS AF: 0.746

Gnomad SAS AF: 0.690

Gnomad FIN AF: 0.552

Gnomad MID AF: 0.541

Gnomad NFE AF: 0.537

Gnomad OTH AF: 0.538

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

GnomAD4 genome AF: 0.566 AC: 85888 AN: 151804 Hom.: 24579 Cov.: 31 AF XY: 0.570 AC XY: 42309 AN XY: 74166

African (AFR) AF: 0.564 AC: 23322 AN: 41336

American (AMR) AF: 0.612 AC: 9339 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.549 AC: 1904 AN: 3468

East Asian (EAS) AF: 0.746 AC: 3836 AN: 5144

South Asian (SAS) AF: 0.689 AC: 3319 AN: 4814

European-Finnish (FIN) AF: 0.552 AC: 5819 AN: 10538

Middle Eastern (MID) AF: 0.538 AC: 157 AN: 292

European-Non Finnish (NFE) AF: 0.537 AC: 36457 AN: 67932

Other (OTH) AF: 0.543 AC: 1147 AN: 2112

Alfa AF: 0.433 Hom.: 1182

Bravo AF: 0.567

Asia WGS AF: 0.723 AC: 2512 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.84
DANN	Benign	0.56
PhyloP100		0.017

Splicing

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

Other links and lift over

dbSNP: rs7116144; hg19: chr11-91900136;