chr8-20057087-C-A

Variant names:

• chr8-20057087-C-A
• rs6586891

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 0.689 in 151,946 control chromosomes in the GnomAD database, including 37,268 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 0.69 (37268 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.159
• Publications: 33 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 (AFR) allele frequency at 95% confidence interval = 0.843 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: 0.689 AC: 104607 AN: 151828 Hom.: 37215 Cov.: 31

Gnomad AFR AF: 0.851

Gnomad AMI AF: 0.778

Gnomad AMR AF: 0.591

Gnomad ASJ AF: 0.755

Gnomad EAS AF: 0.329

Gnomad SAS AF: 0.507

Gnomad FIN AF: 0.659

Gnomad MID AF: 0.707

Gnomad NFE AF: 0.654

Gnomad OTH AF: 0.667

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

GnomAD4 genome AF: 0.689 AC: 104703 AN: 151946 Hom.: 37268 Cov.: 31 AF XY: 0.683 AC XY: 50672 AN XY: 74244

African (AFR) AF: 0.851 AC: 35284 AN: 41480

American (AMR) AF: 0.591 AC: 9015 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.755 AC: 2621 AN: 3470

East Asian (EAS) AF: 0.329 AC: 1697 AN: 5164

South Asian (SAS) AF: 0.509 AC: 2452 AN: 4816

European-Finnish (FIN) AF: 0.659 AC: 6938 AN: 10528

Middle Eastern (MID) AF: 0.709 AC: 207 AN: 292

European-Non Finnish (NFE) AF: 0.653 AC: 44382 AN: 67920

Other (OTH) AF: 0.664 AC: 1402 AN: 2112

Alfa AF: 0.658 Hom.: 9454

Bravo AF: 0.689

Asia WGS AF: 0.444 AC: 1543 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.98
DANN	Benign	0.27
PhyloP100		0.16

Splicing

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

Other links and lift over

dbSNP: rs6586891; hg19: chr8-19914598;