8-128587032-C-G

Variant names:

• chr8-128587032-C-G
• rs4733613

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 0.864 in 151,972 control chromosomes in the GnomAD database, including 56,821 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 0.86 (56821 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.12
• Publications: 14 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 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: 0.864 AC: 131137 AN: 151854 Hom.: 56767 Cov.: 31

Gnomad AFR AF: 0.809

Gnomad AMI AF: 0.705

Gnomad AMR AF: 0.906

Gnomad ASJ AF: 0.832

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.922

Gnomad FIN AF: 0.870

Gnomad MID AF: 0.880

Gnomad NFE AF: 0.875

Gnomad OTH AF: 0.867

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

GnomAD4 genome AF: 0.864 AC: 131248 AN: 151972 Hom.: 56821 Cov.: 31 AF XY: 0.865 AC XY: 64271 AN XY: 74292

African (AFR) AF: 0.809 AC: 33536 AN: 41450

American (AMR) AF: 0.906 AC: 13808 AN: 15238

Ashkenazi Jewish (ASJ) AF: 0.832 AC: 2884 AN: 3466

East Asian (EAS) AF: 0.999 AC: 5150 AN: 5156

South Asian (SAS) AF: 0.922 AC: 4442 AN: 4818

European-Finnish (FIN) AF: 0.870 AC: 9224 AN: 10598

Middle Eastern (MID) AF: 0.881 AC: 259 AN: 294

European-Non Finnish (NFE) AF: 0.875 AC: 59465 AN: 67928

Other (OTH) AF: 0.870 AC: 1837 AN: 2112

Alfa AF: 0.806 Hom.: 1720

Bravo AF: 0.864

Asia WGS AF: 0.952 AC: 3310 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	0.37
DANN	Benign	0.63
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs4733613; hg19: chr8-129599278;