chr8-30019089-G-A

Variant names:

• chr8-30019089-G-A
• rs9297181

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 0.213 in 152,030 control chromosomes in the GnomAD database, including 3,747 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 0.21 (3747 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.648
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.305 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.213 AC: 32305 AN: 151912 Hom.: 3744 Cov.: 32

Gnomad AFR AF: 0.286

Gnomad AMI AF: 0.105

Gnomad AMR AF: 0.185

Gnomad ASJ AF: 0.194

Gnomad EAS AF: 0.317

Gnomad SAS AF: 0.174

Gnomad FIN AF: 0.130

Gnomad MID AF: 0.231

Gnomad NFE AF: 0.184

Gnomad OTH AF: 0.208

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

GnomAD4 genome AF: 0.213 AC: 32341 AN: 152030 Hom.: 3747 Cov.: 32 AF XY: 0.210 AC XY: 15572 AN XY: 74316

African (AFR) AF: 0.286 AC: 11854 AN: 41446

American (AMR) AF: 0.185 AC: 2831 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.194 AC: 674 AN: 3468

East Asian (EAS) AF: 0.317 AC: 1641 AN: 5170

South Asian (SAS) AF: 0.177 AC: 851 AN: 4818

European-Finnish (FIN) AF: 0.130 AC: 1376 AN: 10598

Middle Eastern (MID) AF: 0.235 AC: 69 AN: 294

European-Non Finnish (NFE) AF: 0.184 AC: 12518 AN: 67936

Other (OTH) AF: 0.204 AC: 431 AN: 2108

Alfa AF: 0.191 Hom.: 4895

Bravo AF: 0.222

Asia WGS AF: 0.193 AC: 676 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	6.4
DANN	Benign	0.81
PhyloP100		0.65

Splicing

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

Other links and lift over

dbSNP: rs9297181; hg19: chr8-29876605;