rs6586891

Positions:

• chr8-20057087-C-A
• chr8-20057087-C-G

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.851

Gnomad4 AMR AF: 0.591

Gnomad4 ASJ AF: 0.755

Gnomad4 EAS AF: 0.329

Gnomad4 SAS AF: 0.509

Gnomad4 FIN AF: 0.659

Gnomad4 NFE AF: 0.653

Gnomad4 OTH AF: 0.664

Alfa AF: 0.664 Hom.: 5807

Bravo AF: 0.689

Asia WGS AF: 0.444 AC: 1543 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6586891; hg19: chr8-19914598;