rs11067829

Variant names:

• chr12-109679067-A-G
• rs11067829

Your query was ambiguous. Multiple possible variants found:

• chr12-109679067-A-G
• chr12-109679067-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 0.233 in 152,034 control chromosomes in the GnomAD database, including 4,805 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 0.23 (4805 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.834
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.68).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.483 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: 0.233 AC: 35428 AN: 151916 Hom.: 4804 Cov.: 32

Gnomad AFR AF: 0.190

Gnomad AMI AF: 0.236

Gnomad AMR AF: 0.414

Gnomad ASJ AF: 0.149

Gnomad EAS AF: 0.498

Gnomad SAS AF: 0.307

Gnomad FIN AF: 0.289

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.189

Gnomad OTH AF: 0.254

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

GnomAD4 genome AF: 0.233 AC: 35447 AN: 152034 Hom.: 4805 Cov.: 32 AF XY: 0.243 AC XY: 18069 AN XY: 74324

African (AFR) AF: 0.190 AC: 7871 AN: 41488

American (AMR) AF: 0.414 AC: 6328 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.149 AC: 518 AN: 3468

East Asian (EAS) AF: 0.499 AC: 2571 AN: 5156

South Asian (SAS) AF: 0.306 AC: 1469 AN: 4804

European-Finnish (FIN) AF: 0.289 AC: 3049 AN: 10554

Middle Eastern (MID) AF: 0.248 AC: 73 AN: 294

European-Non Finnish (NFE) AF: 0.189 AC: 12816 AN: 67976

Other (OTH) AF: 0.255 AC: 537 AN: 2110

Alfa AF: 0.209 Hom.: 614

Bravo AF: 0.243

Asia WGS AF: 0.407 AC: 1414 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.68
CADD	Benign	13
DANN	Benign	0.76
PhyloP100		0.83

Splicing

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

Other links and lift over

dbSNP: rs11067829; hg19: chr12-110116872;