8-94327088-T-C

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 0.677 in 152,038 control chromosomes in the GnomAD database, including 38,000 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 0.68 (38000 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.308

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.828 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.677 AC: 102852 AN: 151920 Hom.: 37989 Cov.: 32

Gnomad AFR AF: 0.368

Gnomad AMI AF: 0.772

Gnomad AMR AF: 0.677

Gnomad ASJ AF: 0.794

Gnomad EAS AF: 0.590

Gnomad SAS AF: 0.649

Gnomad FIN AF: 0.877

Gnomad MID AF: 0.741

Gnomad NFE AF: 0.834

Gnomad OTH AF: 0.702

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

GnomAD4 genome AF: 0.677 AC: 102895 AN: 152038 Hom.: 38000 Cov.: 32 AF XY: 0.676 AC XY: 50264 AN XY: 74340

Gnomad4 AFR AF: 0.368

Gnomad4 AMR AF: 0.677

Gnomad4 ASJ AF: 0.794

Gnomad4 EAS AF: 0.590

Gnomad4 SAS AF: 0.649

Gnomad4 FIN AF: 0.877

Gnomad4 NFE AF: 0.834

Gnomad4 OTH AF: 0.701

Alfa AF: 0.786 Hom.: 30380

Bravo AF: 0.649

Asia WGS AF: 0.606 AC: 2109 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
Cadd	Benign	3.6
Dann	Benign	0.83

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2445729; hg19: chr8-95339316;