8-7062226-G-T

Variant names:

• chr8-7062226-G-T
• rs7834209

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 0.459 in 152,040 control chromosomes in the GnomAD database, including 19,909 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 0.46 (19909 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.103
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.798 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: 0.459 AC: 69730 AN: 151922 Hom.: 19868 Cov.: 31

Gnomad AFR AF: 0.805

Gnomad AMI AF: 0.255

Gnomad AMR AF: 0.450

Gnomad ASJ AF: 0.347

Gnomad EAS AF: 0.518

Gnomad SAS AF: 0.414

Gnomad FIN AF: 0.254

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.291

Gnomad OTH AF: 0.426

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

GnomAD4 genome AF: 0.459 AC: 69818 AN: 152040 Hom.: 19909 Cov.: 31 AF XY: 0.455 AC XY: 33793 AN XY: 74326

African (AFR) AF: 0.805 AC: 33406 AN: 41476

American (AMR) AF: 0.449 AC: 6858 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.347 AC: 1202 AN: 3468

East Asian (EAS) AF: 0.519 AC: 2662 AN: 5134

South Asian (SAS) AF: 0.411 AC: 1979 AN: 4814

European-Finnish (FIN) AF: 0.254 AC: 2691 AN: 10592

Middle Eastern (MID) AF: 0.276 AC: 81 AN: 294

European-Non Finnish (NFE) AF: 0.291 AC: 19813 AN: 67980

Other (OTH) AF: 0.424 AC: 895 AN: 2110

Alfa AF: 0.347 Hom.: 47261

Bravo AF: 0.489

Asia WGS AF: 0.440 AC: 1529 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.0
DANN	Benign	0.25
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs7834209; hg19: chr8-6919748;