chr8-8910809-G-A

Variant names:

• chr8-8910809-G-A
• rs433960

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 0.606 in 152,074 control chromosomes in the GnomAD database, including 28,991 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 0.61 (28991 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0910

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.869 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: 0.606 AC: 92079 AN: 151956 Hom.: 28952 Cov.: 33

Gnomad AFR AF: 0.454

Gnomad AMI AF: 0.672

Gnomad AMR AF: 0.717

Gnomad ASJ AF: 0.614

Gnomad EAS AF: 0.891

Gnomad SAS AF: 0.731

Gnomad FIN AF: 0.636

Gnomad MID AF: 0.475

Gnomad NFE AF: 0.637

Gnomad OTH AF: 0.612

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

GnomAD4 genome AF: 0.606 AC: 92176 AN: 152074 Hom.: 28991 Cov.: 33 AF XY: 0.612 AC XY: 45468 AN XY: 74310

Gnomad4 AFR AF: 0.454 AC: 0.454429 AN: 0.454429

Gnomad4 AMR AF: 0.718 AC: 0.717539 AN: 0.717539

Gnomad4 ASJ AF: 0.614 AC: 0.613767 AN: 0.613767

Gnomad4 EAS AF: 0.891 AC: 0.890673 AN: 0.890673

Gnomad4 SAS AF: 0.734 AC: 0.733527 AN: 0.733527

Gnomad4 FIN AF: 0.636 AC: 0.635666 AN: 0.635666

Gnomad4 NFE AF: 0.637 AC: 0.637234 AN: 0.637234

Gnomad4 OTH AF: 0.616 AC: 0.615894 AN: 0.615894

Alfa AF: 0.635 Hom.: 131511

Bravo AF: 0.610

Asia WGS AF: 0.793 AC: 2757 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	0.67
DANN	Benign	0.60

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs433960; hg19: chr8-8768319;