8-20045407-A-G

Variant names:

• chr8-20045407-A-G
• rs6993414

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 0.0929 in 152,276 control chromosomes in the GnomAD database, including 697 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 0.093 (697 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.806
• Publications: 15 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.62).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.115 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0930 AC: 14156 AN: 152158 Hom.: 698 Cov.: 33

Gnomad AFR AF: 0.0643

Gnomad AMI AF: 0.147

Gnomad AMR AF: 0.0792

Gnomad ASJ AF: 0.142

Gnomad EAS AF: 0.123

Gnomad SAS AF: 0.110

Gnomad FIN AF: 0.0913

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.107

Gnomad OTH AF: 0.0981

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

GnomAD4 genome AF: 0.0929 AC: 14152 AN: 152276 Hom.: 697 Cov.: 33 AF XY: 0.0927 AC XY: 6903 AN XY: 74470

African (AFR) AF: 0.0643 AC: 2673 AN: 41572

American (AMR) AF: 0.0791 AC: 1210 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.142 AC: 493 AN: 3468

East Asian (EAS) AF: 0.123 AC: 636 AN: 5184

South Asian (SAS) AF: 0.110 AC: 533 AN: 4828

European-Finnish (FIN) AF: 0.0913 AC: 968 AN: 10604

Middle Eastern (MID) AF: 0.109 AC: 32 AN: 294

European-Non Finnish (NFE) AF: 0.107 AC: 7268 AN: 68010

Other (OTH) AF: 0.0971 AC: 205 AN: 2112

Alfa AF: 0.102 Hom.: 1035

Bravo AF: 0.0898

Asia WGS AF: 0.114 AC: 396 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.62
CADD	Benign	8.5
DANN	Benign	0.89
PhyloP100		0.81

Splicing

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

Other links and lift over

dbSNP: rs6993414; hg19: chr8-19902918;