8-128587032-C-G

Position:

• chr8-128587032-C-G

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

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

Gnomad4 AFR AF: 0.809

Gnomad4 AMR AF: 0.906

Gnomad4 ASJ AF: 0.832

Gnomad4 EAS AF: 0.999

Gnomad4 SAS AF: 0.922

Gnomad4 FIN AF: 0.870

Gnomad4 NFE AF: 0.875

Gnomad4 OTH AF: 0.870

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 v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.37
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4733613; hg19: chr8-129599278;