11-110574927-A-G

Variant names:

• chr11-110574927-A-G
• rs17111435

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 0.0612 in 152,268 control chromosomes in the GnomAD database, including 307 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 0.061 (307 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.49
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0746 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: 0.0612 AC: 9315 AN: 152150 Hom.: 306 Cov.: 33

Gnomad AFR AF: 0.0484

Gnomad AMI AF: 0.139

Gnomad AMR AF: 0.0414

Gnomad ASJ AF: 0.0662

Gnomad EAS AF: 0.0302

Gnomad SAS AF: 0.0581

Gnomad FIN AF: 0.0520

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.0763

Gnomad OTH AF: 0.0522

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

GnomAD4 genome AF: 0.0612 AC: 9320 AN: 152268 Hom.: 307 Cov.: 33 AF XY: 0.0592 AC XY: 4406 AN XY: 74448

African (AFR) AF: 0.0485 AC: 2014 AN: 41558

American (AMR) AF: 0.0412 AC: 631 AN: 15304

Ashkenazi Jewish (ASJ) AF: 0.0662 AC: 230 AN: 3472

East Asian (EAS) AF: 0.0305 AC: 158 AN: 5184

South Asian (SAS) AF: 0.0583 AC: 281 AN: 4816

European-Finnish (FIN) AF: 0.0520 AC: 551 AN: 10604

Middle Eastern (MID) AF: 0.0952 AC: 28 AN: 294

European-Non Finnish (NFE) AF: 0.0763 AC: 5191 AN: 68012

Other (OTH) AF: 0.0516 AC: 109 AN: 2112

Alfa AF: 0.0574 Hom.: 104

Bravo AF: 0.0593

Asia WGS AF: 0.0450 AC: 159 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	9.5
DANN	Benign	0.47
PhyloP100		1.5

Splicing

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

Other links and lift over

dbSNP: rs17111435; hg19: chr11-110445651;