rs581133

Variant names:

• chr11-60114833-A-G
• rs581133

Your query was ambiguous. Multiple possible variants found:

• chr11-60114833-A-G
• chr11-60114833-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 0.391 in 152,024 control chromosomes in the GnomAD database, including 11,999 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 0.39 (11999 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.574
• Publications: 12 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 (SAS) allele frequency at 95% confidence interval = 0.529 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: 0.391 AC: 59339 AN: 151906 Hom.: 11991 Cov.: 32

Gnomad AFR AF: 0.320

Gnomad AMI AF: 0.425

Gnomad AMR AF: 0.340

Gnomad ASJ AF: 0.461

Gnomad EAS AF: 0.377

Gnomad SAS AF: 0.546

Gnomad FIN AF: 0.307

Gnomad MID AF: 0.557

Gnomad NFE AF: 0.442

Gnomad OTH AF: 0.430

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

GnomAD4 genome AF: 0.391 AC: 59370 AN: 152024 Hom.: 11999 Cov.: 32 AF XY: 0.387 AC XY: 28730 AN XY: 74326

African (AFR) AF: 0.320 AC: 13270 AN: 41470

American (AMR) AF: 0.339 AC: 5188 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.461 AC: 1598 AN: 3466

East Asian (EAS) AF: 0.377 AC: 1942 AN: 5156

South Asian (SAS) AF: 0.547 AC: 2636 AN: 4820

European-Finnish (FIN) AF: 0.307 AC: 3245 AN: 10556

Middle Eastern (MID) AF: 0.554 AC: 163 AN: 294

European-Non Finnish (NFE) AF: 0.442 AC: 30037 AN: 67958

Other (OTH) AF: 0.429 AC: 904 AN: 2108

Alfa AF: 0.431 Hom.: 7395

Bravo AF: 0.386

Asia WGS AF: 0.461 AC: 1603 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	0.77
DANN	Benign	0.50
PhyloP100		-0.57

Splicing

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

Other links and lift over

dbSNP: rs581133; hg19: chr11-59882306;