rs6591333

Variant names:

• chr11-68135293-G-A
• rs6591333

Your query was ambiguous. Multiple possible variants found:

• chr11-68135293-G-A
• chr11-68135293-G-C

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 0.571 in 152,038 control chromosomes in the GnomAD database, including 24,935 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 0.57 (24935 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.249
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.664 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: 0.571 AC: 86767 AN: 151920 Hom.: 24922 Cov.: 32

Gnomad AFR AF: 0.521

Gnomad AMI AF: 0.512

Gnomad AMR AF: 0.661

Gnomad ASJ AF: 0.618

Gnomad EAS AF: 0.666

Gnomad SAS AF: 0.685

Gnomad FIN AF: 0.585

Gnomad MID AF: 0.709

Gnomad NFE AF: 0.561

Gnomad OTH AF: 0.591

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

GnomAD4 genome AF: 0.571 AC: 86819 AN: 152038 Hom.: 24935 Cov.: 32 AF XY: 0.576 AC XY: 42798 AN XY: 74322

African (AFR) AF: 0.520 AC: 21563 AN: 41444

American (AMR) AF: 0.661 AC: 10090 AN: 15264

Ashkenazi Jewish (ASJ) AF: 0.618 AC: 2144 AN: 3470

East Asian (EAS) AF: 0.667 AC: 3453 AN: 5180

South Asian (SAS) AF: 0.684 AC: 3296 AN: 4822

European-Finnish (FIN) AF: 0.585 AC: 6178 AN: 10568

Middle Eastern (MID) AF: 0.707 AC: 208 AN: 294

European-Non Finnish (NFE) AF: 0.562 AC: 38167 AN: 67972

Other (OTH) AF: 0.593 AC: 1254 AN: 2114

Alfa AF: 0.567 Hom.: 4325

Bravo AF: 0.579

Asia WGS AF: 0.637 AC: 2217 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.1
DANN	Benign	0.62
PhyloP100		0.25

Splicing

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

Other links and lift over

dbSNP: rs6591333; hg19: chr11-67902760;