rs11113207

Variant names:

• chr12-107168289-A-G
• rs11113207

Your query was ambiguous. Multiple possible variants found:

• chr12-107168289-A-G
• chr12-107168289-A-T

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 0.715 in 152,050 control chromosomes in the GnomAD database, including 40,052 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 0.72 (40052 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.396
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.886 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: 0.715 AC: 108583 AN: 151932 Hom.: 39972 Cov.: 32

Gnomad AFR AF: 0.893

Gnomad AMI AF: 0.692

Gnomad AMR AF: 0.735

Gnomad ASJ AF: 0.673

Gnomad EAS AF: 0.691

Gnomad SAS AF: 0.607

Gnomad FIN AF: 0.612

Gnomad MID AF: 0.725

Gnomad NFE AF: 0.629

Gnomad OTH AF: 0.704

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

GnomAD4 genome AF: 0.715 AC: 108733 AN: 152050 Hom.: 40052 Cov.: 32 AF XY: 0.715 AC XY: 53146 AN XY: 74322

African (AFR) AF: 0.894 AC: 37093 AN: 41502

American (AMR) AF: 0.735 AC: 11225 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.673 AC: 2336 AN: 3470

East Asian (EAS) AF: 0.692 AC: 3573 AN: 5162

South Asian (SAS) AF: 0.608 AC: 2930 AN: 4820

European-Finnish (FIN) AF: 0.612 AC: 6470 AN: 10564

Middle Eastern (MID) AF: 0.728 AC: 214 AN: 294

European-Non Finnish (NFE) AF: 0.629 AC: 42769 AN: 67950

Other (OTH) AF: 0.709 AC: 1493 AN: 2106

Alfa AF: 0.701 Hom.: 6629

Bravo AF: 0.735

Asia WGS AF: 0.680 AC: 2362 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.8
DANN	Benign	0.78
PhyloP100		-0.40

Splicing

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

Other links and lift over

dbSNP: rs11113207; hg19: chr12-107562067;