8-93184488-A-G

Variant names:

• chr8-93184488-A-G
• rs278586

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 0.934 in 152,198 control chromosomes in the GnomAD database, including 66,433 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 0.93 (66433 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.514
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 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: 0.934 AC: 142062 AN: 152080 Hom.: 66401 Cov.: 31

Gnomad AFR AF: 0.911

Gnomad AMI AF: 0.918

Gnomad AMR AF: 0.953

Gnomad ASJ AF: 0.936

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.927

Gnomad FIN AF: 0.950

Gnomad MID AF: 0.896

Gnomad NFE AF: 0.938

Gnomad OTH AF: 0.929

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

GnomAD4 genome AF: 0.934 AC: 142148 AN: 152198 Hom.: 66433 Cov.: 31 AF XY: 0.934 AC XY: 69539 AN XY: 74418

African (AFR) AF: 0.910 AC: 37794 AN: 41524

American (AMR) AF: 0.953 AC: 14578 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.936 AC: 3251 AN: 3472

East Asian (EAS) AF: 0.999 AC: 5166 AN: 5170

South Asian (SAS) AF: 0.927 AC: 4476 AN: 4828

European-Finnish (FIN) AF: 0.950 AC: 10064 AN: 10596

Middle Eastern (MID) AF: 0.891 AC: 262 AN: 294

European-Non Finnish (NFE) AF: 0.938 AC: 63759 AN: 68002

Other (OTH) AF: 0.929 AC: 1961 AN: 2110

Alfa AF: 0.932 Hom.: 10385

Bravo AF: 0.933

Asia WGS AF: 0.968 AC: 3368 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	4.7
DANN	Benign	0.57
PhyloP100		0.51

Splicing

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

Other links and lift over

dbSNP: rs278586; hg19: chr8-94196717;