rs11783752

Variant names:

• chr8-20192013-G-A
• rs11783752

Your query was ambiguous. Multiple possible variants found:

• chr8-20192013-G-A
• chr8-20192013-G-C
• chr8-20192013-G-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 0.697 in 152,080 control chromosomes in the GnomAD database, including 37,215 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 0.70 (37215 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.128
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.758 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.697 AC: 105960 AN: 151962 Hom.: 37190 Cov.: 32

Gnomad AFR AF: 0.712

Gnomad AMI AF: 0.579

Gnomad AMR AF: 0.769

Gnomad ASJ AF: 0.780

Gnomad EAS AF: 0.742

Gnomad SAS AF: 0.652

Gnomad FIN AF: 0.626

Gnomad MID AF: 0.744

Gnomad NFE AF: 0.679

Gnomad OTH AF: 0.724

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

GnomAD4 genome AF: 0.697 AC: 106043 AN: 152080 Hom.: 37215 Cov.: 32 AF XY: 0.696 AC XY: 51753 AN XY: 74326

African (AFR) AF: 0.712 AC: 29531 AN: 41490

American (AMR) AF: 0.769 AC: 11755 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.780 AC: 2707 AN: 3470

East Asian (EAS) AF: 0.743 AC: 3827 AN: 5152

South Asian (SAS) AF: 0.651 AC: 3140 AN: 4824

European-Finnish (FIN) AF: 0.626 AC: 6614 AN: 10558

Middle Eastern (MID) AF: 0.748 AC: 220 AN: 294

European-Non Finnish (NFE) AF: 0.679 AC: 46186 AN: 67986

Other (OTH) AF: 0.727 AC: 1536 AN: 2114

Alfa AF: 0.691 Hom.: 117546

Bravo AF: 0.712

Asia WGS AF: 0.712 AC: 2479 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.57
DANN	Benign	0.46
PhyloP100		-0.13

Splicing

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

Other links and lift over

dbSNP: rs11783752; hg19: chr8-20049524;