chr8-94327088-T-C

Variant names:

• chr8-94327088-T-C
• rs2445729

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 0.677 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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.368 AC: 15238 AN: 41420

American (AMR) AF: 0.677 AC: 10344 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.794 AC: 2756 AN: 3470

East Asian (EAS) AF: 0.590 AC: 3054 AN: 5178

South Asian (SAS) AF: 0.649 AC: 3127 AN: 4816

European-Finnish (FIN) AF: 0.877 AC: 9303 AN: 10606

Middle Eastern (MID) AF: 0.741 AC: 218 AN: 294

European-Non Finnish (NFE) AF: 0.834 AC: 56670 AN: 67952

Other (OTH) AF: 0.701 AC: 1481 AN: 2112

Alfa AF: 0.785 Hom.: 36382

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
PhyloP100		0.31

Splicing

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

Other links and lift over

dbSNP: rs2445729; hg19: chr8-95339316;