8-27073668-A-G

Variant names:

• chr8-27073668-A-G
• rs4733020

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 0.905 in 152,250 control chromosomes in the GnomAD database, including 62,579 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 0.91 (62579 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.210
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.977 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.905 AC: 137717 AN: 152132 Hom.: 62536 Cov.: 32

Gnomad AFR AF: 0.831

Gnomad AMI AF: 0.987

Gnomad AMR AF: 0.933

Gnomad ASJ AF: 0.875

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.947

Gnomad FIN AF: 0.965

Gnomad MID AF: 0.908

Gnomad NFE AF: 0.926

Gnomad OTH AF: 0.896

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

GnomAD4 genome AF: 0.905 AC: 137819 AN: 152250 Hom.: 62579 Cov.: 32 AF XY: 0.910 AC XY: 67709 AN XY: 74446

African (AFR) AF: 0.831 AC: 34512 AN: 41528

American (AMR) AF: 0.933 AC: 14276 AN: 15306

Ashkenazi Jewish (ASJ) AF: 0.875 AC: 3039 AN: 3472

East Asian (EAS) AF: 0.999 AC: 5184 AN: 5188

South Asian (SAS) AF: 0.946 AC: 4560 AN: 4818

European-Finnish (FIN) AF: 0.965 AC: 10229 AN: 10602

Middle Eastern (MID) AF: 0.898 AC: 264 AN: 294

European-Non Finnish (NFE) AF: 0.926 AC: 62960 AN: 68018

Other (OTH) AF: 0.897 AC: 1895 AN: 2112

Alfa AF: 0.910 Hom.: 8146

Bravo AF: 0.900

Asia WGS AF: 0.971 AC: 3374 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	3.7
DANN	Benign	0.22
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs4733020; hg19: chr8-26931185;