rs11833579

Variant names:

• chr12-666033-G-A
• rs11833579

Your query was ambiguous. Multiple possible variants found:

• chr12-666033-G-A
• chr12-666033-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.255 in 151,392 control chromosomes in the GnomAD database, including 5,063 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 0.26 (5063 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.203

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.346 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: 0.255 AC: 38618 AN: 151286 Hom.: 5061 Cov.: 31

Gnomad AFR AF: 0.217

Gnomad AMI AF: 0.382

Gnomad AMR AF: 0.302

Gnomad ASJ AF: 0.330

Gnomad EAS AF: 0.358

Gnomad SAS AF: 0.360

Gnomad FIN AF: 0.217

Gnomad MID AF: 0.307

Gnomad NFE AF: 0.252

Gnomad OTH AF: 0.279

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

GnomAD4 genome AF: 0.255 AC: 38633 AN: 151392 Hom.: 5063 Cov.: 31 AF XY: 0.259 AC XY: 19117 AN XY: 73904

Gnomad4 AFR AF: 0.217

Gnomad4 AMR AF: 0.302

Gnomad4 ASJ AF: 0.330

Gnomad4 EAS AF: 0.359

Gnomad4 SAS AF: 0.360

Gnomad4 FIN AF: 0.217

Gnomad4 NFE AF: 0.252

Gnomad4 OTH AF: 0.278

Alfa AF: 0.237 Hom.: 2087

Bravo AF: 0.259

Asia WGS AF: 0.313 AC: 1085 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.32
DANN	Benign	0.37

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11833579; hg19: chr12-775199;