8-94327088-T-C

Variant names:

• chr8-94327088-T-C
• rs2445729

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;