chr8-70033364-A-G

Variant names:

• chr8-70033364-A-G
• rs6993479

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 0.567 in 151,864 control chromosomes in the GnomAD database, including 24,893 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 (24893 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.946
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.751 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: 0.567 AC: 86041 AN: 151750 Hom.: 24860 Cov.: 32

Gnomad AFR AF: 0.660

Gnomad AMI AF: 0.503

Gnomad AMR AF: 0.509

Gnomad ASJ AF: 0.651

Gnomad EAS AF: 0.771

Gnomad SAS AF: 0.637

Gnomad FIN AF: 0.529

Gnomad MID AF: 0.623

Gnomad NFE AF: 0.505

Gnomad OTH AF: 0.556

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

GnomAD4 genome AF: 0.567 AC: 86129 AN: 151864 Hom.: 24893 Cov.: 32 AF XY: 0.567 AC XY: 42099 AN XY: 74184

African (AFR) AF: 0.660 AC: 27356 AN: 41444

American (AMR) AF: 0.509 AC: 7760 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.651 AC: 2259 AN: 3472

East Asian (EAS) AF: 0.771 AC: 3963 AN: 5138

South Asian (SAS) AF: 0.639 AC: 3079 AN: 4816

European-Finnish (FIN) AF: 0.529 AC: 5566 AN: 10512

Middle Eastern (MID) AF: 0.626 AC: 184 AN: 294

European-Non Finnish (NFE) AF: 0.505 AC: 34327 AN: 67934

Other (OTH) AF: 0.558 AC: 1179 AN: 2112

Alfa AF: 0.513 Hom.: 9438

Bravo AF: 0.565

Asia WGS AF: 0.710 AC: 2464 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	8.0
DANN	Benign	0.43
PhyloP100		0.95

Splicing

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

Other links and lift over

dbSNP: rs6993479; hg19: chr8-70945599;