chr8-128252343-A-G

Variant names:

• chr8-128252343-A-G
• rs9792269

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 0.185 in 152,210 control chromosomes in the GnomAD database, including 3,126 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 0.18 (3126 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0160
• Publications: 25 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.243 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: 0.185 AC: 28106 AN: 152092 Hom.: 3122 Cov.: 32

Gnomad AFR AF: 0.0591

Gnomad AMI AF: 0.198

Gnomad AMR AF: 0.233

Gnomad ASJ AF: 0.323

Gnomad EAS AF: 0.140

Gnomad SAS AF: 0.217

Gnomad FIN AF: 0.164

Gnomad MID AF: 0.285

Gnomad NFE AF: 0.246

Gnomad OTH AF: 0.209

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

GnomAD4 genome AF: 0.185 AC: 28114 AN: 152210 Hom.: 3126 Cov.: 32 AF XY: 0.183 AC XY: 13611 AN XY: 74422

African (AFR) AF: 0.0590 AC: 2452 AN: 41560

American (AMR) AF: 0.234 AC: 3574 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.323 AC: 1120 AN: 3472

East Asian (EAS) AF: 0.140 AC: 723 AN: 5172

South Asian (SAS) AF: 0.217 AC: 1048 AN: 4824

European-Finnish (FIN) AF: 0.164 AC: 1741 AN: 10606

Middle Eastern (MID) AF: 0.289 AC: 85 AN: 294

European-Non Finnish (NFE) AF: 0.246 AC: 16748 AN: 67968

Other (OTH) AF: 0.209 AC: 442 AN: 2114

Alfa AF: 0.225 Hom.: 15877

Bravo AF: 0.183

Asia WGS AF: 0.189 AC: 657 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.36
DANN	Benign	0.44
PhyloP100		0.016

Splicing

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

Other links and lift over

dbSNP: rs9792269; hg19: chr8-129264589;