8-34666485-A-G

Variant names:

• chr8-34666485-A-G
• rs6987004

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 0.197 in 152,016 control chromosomes in the GnomAD database, including 3,543 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 0.20 (3543 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.41
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.454 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: 0.197 AC: 29927 AN: 151898 Hom.: 3534 Cov.: 32

Gnomad AFR AF: 0.276

Gnomad AMI AF: 0.0681

Gnomad AMR AF: 0.252

Gnomad ASJ AF: 0.115

Gnomad EAS AF: 0.470

Gnomad SAS AF: 0.284

Gnomad FIN AF: 0.145

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.124

Gnomad OTH AF: 0.195

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

GnomAD4 genome AF: 0.197 AC: 29976 AN: 152016 Hom.: 3543 Cov.: 32 AF XY: 0.201 AC XY: 14959 AN XY: 74292

African (AFR) AF: 0.277 AC: 11471 AN: 41450

American (AMR) AF: 0.252 AC: 3843 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.115 AC: 398 AN: 3470

East Asian (EAS) AF: 0.469 AC: 2409 AN: 5134

South Asian (SAS) AF: 0.284 AC: 1369 AN: 4820

European-Finnish (FIN) AF: 0.145 AC: 1540 AN: 10592

Middle Eastern (MID) AF: 0.180 AC: 53 AN: 294

European-Non Finnish (NFE) AF: 0.124 AC: 8409 AN: 67984

Other (OTH) AF: 0.200 AC: 422 AN: 2106

Alfa AF: 0.155 Hom.: 8351

Bravo AF: 0.211

Asia WGS AF: 0.367 AC: 1275 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.19
DANN	Benign	0.38
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs6987004; hg19: chr8-34524003;