chr8-18233876-A-C

Variant names:

• chr8-18233876-A-C
• rs4921583

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 0.559 in 151,990 control chromosomes in the GnomAD database, including 23,845 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 0.56 (23845 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.27
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.573 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: 0.559 AC: 84928 AN: 151872 Hom.: 23802 Cov.: 32

Gnomad AFR AF: 0.579

Gnomad AMI AF: 0.435

Gnomad AMR AF: 0.533

Gnomad ASJ AF: 0.602

Gnomad EAS AF: 0.495

Gnomad SAS AF: 0.537

Gnomad FIN AF: 0.494

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.569

Gnomad OTH AF: 0.552

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

GnomAD4 genome AF: 0.559 AC: 85029 AN: 151990 Hom.: 23845 Cov.: 32 AF XY: 0.554 AC XY: 41168 AN XY: 74288

African (AFR) AF: 0.580 AC: 24010 AN: 41424

American (AMR) AF: 0.533 AC: 8141 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.602 AC: 2088 AN: 3470

East Asian (EAS) AF: 0.496 AC: 2560 AN: 5166

South Asian (SAS) AF: 0.539 AC: 2597 AN: 4822

European-Finnish (FIN) AF: 0.494 AC: 5217 AN: 10552

Middle Eastern (MID) AF: 0.619 AC: 182 AN: 294

European-Non Finnish (NFE) AF: 0.569 AC: 38668 AN: 67964

Other (OTH) AF: 0.555 AC: 1170 AN: 2110

Alfa AF: 0.418 Hom.: 1026

Bravo AF: 0.561

Asia WGS AF: 0.500 AC: 1739 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.21
DANN	Benign	0.42
PhyloP100		-2.3

Splicing

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

Other links and lift over

dbSNP: rs4921583; hg19: chr8-18091385;