8-18458211-G-A

Position:

• chr8-18458211-G-A

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 0.49 in 152,048 control chromosomes in the GnomAD database, including 18,544 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 0.49 (18544 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0250

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.595 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.490 AC: 74422 AN: 151930 Hom.: 18519 Cov.: 32

Gnomad AFR AF: 0.556

Gnomad AMI AF: 0.500

Gnomad AMR AF: 0.405

Gnomad ASJ AF: 0.440

Gnomad EAS AF: 0.460

Gnomad SAS AF: 0.616

Gnomad FIN AF: 0.521

Gnomad MID AF: 0.494

Gnomad NFE AF: 0.460

Gnomad OTH AF: 0.478

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

GnomAD4 genome AF: 0.490 AC: 74494 AN: 152048 Hom.: 18544 Cov.: 32 AF XY: 0.494 AC XY: 36690 AN XY: 74310

Gnomad4 AFR AF: 0.556

Gnomad4 AMR AF: 0.405

Gnomad4 ASJ AF: 0.440

Gnomad4 EAS AF: 0.459

Gnomad4 SAS AF: 0.614

Gnomad4 FIN AF: 0.521

Gnomad4 NFE AF: 0.460

Gnomad4 OTH AF: 0.482

Alfa AF: 0.430 Hom.: 5085

Bravo AF: 0.479

Asia WGS AF: 0.577 AC: 2008 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.8
DANN	Benign	0.45

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7000897; hg19: chr8-18315721;