8-9796392-T-C

Variant names:

• chr8-9796392-T-C
• rs4841218

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 0.572 in 151,972 control chromosomes in the GnomAD database, including 25,401 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 0.57 (25401 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.637
• Publications: 4 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 (NFE) allele frequency at 95% confidence interval = 0.624 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.572 AC: 86911 AN: 151854 Hom.: 25406 Cov.: 31

Gnomad AFR AF: 0.506

Gnomad AMI AF: 0.740

Gnomad AMR AF: 0.501

Gnomad ASJ AF: 0.769

Gnomad EAS AF: 0.488

Gnomad SAS AF: 0.623

Gnomad FIN AF: 0.493

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.629

Gnomad OTH AF: 0.618

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

GnomAD4 genome AF: 0.572 AC: 86927 AN: 151972 Hom.: 25401 Cov.: 31 AF XY: 0.567 AC XY: 42126 AN XY: 74272

African (AFR) AF: 0.506 AC: 20945 AN: 41420

American (AMR) AF: 0.501 AC: 7656 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.769 AC: 2671 AN: 3472

East Asian (EAS) AF: 0.488 AC: 2518 AN: 5164

South Asian (SAS) AF: 0.621 AC: 2990 AN: 4812

European-Finnish (FIN) AF: 0.493 AC: 5203 AN: 10550

Middle Eastern (MID) AF: 0.697 AC: 205 AN: 294

European-Non Finnish (NFE) AF: 0.629 AC: 42765 AN: 67964

Other (OTH) AF: 0.616 AC: 1299 AN: 2108

Alfa AF: 0.606 Hom.: 17019

Bravo AF: 0.564

Asia WGS AF: 0.523 AC: 1820 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	6.1
DANN	Benign	0.59
PhyloP100		0.64

Splicing

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

Other links and lift over

dbSNP: rs4841218; hg19: chr8-9653902;