rs8045405

Variant names:

• chr16-8453220-G-A
• rs8045405

Your query was ambiguous. Multiple possible variants found:

• chr16-8453220-G-A
• chr16-8453220-G-C

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.851 in 152,212 control chromosomes in the GnomAD database, including 55,374 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 0.85 (55374 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.10
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.37).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.973 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: 0.851 AC: 129388 AN: 152094 Hom.: 55332 Cov.: 33

Gnomad AFR AF: 0.929

Gnomad AMI AF: 0.720

Gnomad AMR AF: 0.879

Gnomad ASJ AF: 0.887

Gnomad EAS AF: 0.996

Gnomad SAS AF: 0.845

Gnomad FIN AF: 0.802

Gnomad MID AF: 0.911

Gnomad NFE AF: 0.793

Gnomad OTH AF: 0.849

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

GnomAD4 genome AF: 0.851 AC: 129482 AN: 152212 Hom.: 55374 Cov.: 33 AF XY: 0.853 AC XY: 63480 AN XY: 74394

African (AFR) AF: 0.929 AC: 38601 AN: 41530

American (AMR) AF: 0.879 AC: 13451 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.887 AC: 3077 AN: 3470

East Asian (EAS) AF: 0.996 AC: 5163 AN: 5184

South Asian (SAS) AF: 0.844 AC: 4065 AN: 4818

European-Finnish (FIN) AF: 0.802 AC: 8487 AN: 10578

Middle Eastern (MID) AF: 0.918 AC: 270 AN: 294

European-Non Finnish (NFE) AF: 0.793 AC: 53930 AN: 68020

Other (OTH) AF: 0.844 AC: 1781 AN: 2110

Alfa AF: 0.855 Hom.: 33855

Bravo AF: 0.859

Asia WGS AF: 0.901 AC: 3134 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.37
CADD	Benign	10
DANN	Benign	0.66
PhyloP100		2.1

Splicing

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

Other links and lift over

dbSNP: rs8045405; hg19: chr16-8503222;