rs11758713

Variant names:

• chr6-66326471-A-G
• rs11758713

Your query was ambiguous. Multiple possible variants found:

• chr6-66326471-A-G
• chr6-66326471-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 0.489 in 149,550 control chromosomes in the GnomAD database, including 19,742 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 0.49 (19742 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0910
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.516 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: 0.488 AC: 72984 AN: 149434 Hom.: 19714 Cov.: 30

Gnomad AFR AF: 0.469

Gnomad AMI AF: 0.509

Gnomad AMR AF: 0.472

Gnomad ASJ AF: 0.414

Gnomad EAS AF: 0.377

Gnomad SAS AF: 0.468

Gnomad FIN AF: 0.472

Gnomad MID AF: 0.316

Gnomad NFE AF: 0.521

Gnomad OTH AF: 0.492

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

GnomAD4 genome AF: 0.489 AC: 73061 AN: 149550 Hom.: 19742 Cov.: 30 AF XY: 0.484 AC XY: 35307 AN XY: 72928

African (AFR) AF: 0.469 AC: 19295 AN: 41160

American (AMR) AF: 0.473 AC: 7070 AN: 14938

Ashkenazi Jewish (ASJ) AF: 0.414 AC: 1422 AN: 3438

East Asian (EAS) AF: 0.377 AC: 1943 AN: 5154

South Asian (SAS) AF: 0.470 AC: 2204 AN: 4694

European-Finnish (FIN) AF: 0.472 AC: 4752 AN: 10066

Middle Eastern (MID) AF: 0.326 AC: 92 AN: 282

European-Non Finnish (NFE) AF: 0.521 AC: 34834 AN: 66884

Other (OTH) AF: 0.487 AC: 995 AN: 2042

Alfa AF: 0.505 Hom.: 13656

Asia WGS AF: 0.449 AC: 1565 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.5
DANN	Benign	0.57
PhyloP100		-0.091

Splicing

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

Other links and lift over

dbSNP: rs11758713; hg19: chr6-67036364;