8-109208578-C-G

Variant names:

• chr8-109208578-C-G
• rs6469245

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 0.501 in 151,862 control chromosomes in the GnomAD database, including 20,522 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 0.50 (20522 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.482

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.691 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.501 AC: 75952 AN: 151744 Hom.: 20478 Cov.: 32

Gnomad AFR AF: 0.697

Gnomad AMI AF: 0.578

Gnomad AMR AF: 0.512

Gnomad ASJ AF: 0.258

Gnomad EAS AF: 0.475

Gnomad SAS AF: 0.531

Gnomad FIN AF: 0.454

Gnomad MID AF: 0.236

Gnomad NFE AF: 0.399

Gnomad OTH AF: 0.447

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

GnomAD4 genome AF: 0.501 AC: 76055 AN: 151862 Hom.: 20522 Cov.: 32 AF XY: 0.504 AC XY: 37363 AN XY: 74198

Gnomad4 AFR AF: 0.697

Gnomad4 AMR AF: 0.512

Gnomad4 ASJ AF: 0.258

Gnomad4 EAS AF: 0.476

Gnomad4 SAS AF: 0.531

Gnomad4 FIN AF: 0.454

Gnomad4 NFE AF: 0.399

Gnomad4 OTH AF: 0.451

Alfa AF: 0.296 Hom.: 721

Bravo AF: 0.510

Asia WGS AF: 0.566 AC: 1948 AN: 3448

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.5
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6469245; hg19: chr8-110220807;