rs8066099

Variant names:

• chr17-14986608-C-T
• rs8066099

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 0.0417 in 152,276 control chromosomes in the GnomAD database, including 158 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 0.042 (158 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.61
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.072 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: 0.0417 AC: 6341 AN: 152158 Hom.: 157 Cov.: 32

Gnomad AFR AF: 0.0741

Gnomad AMI AF: 0.0888

Gnomad AMR AF: 0.0154

Gnomad ASJ AF: 0.0150

Gnomad EAS AF: 0.0245

Gnomad SAS AF: 0.0244

Gnomad FIN AF: 0.0463

Gnomad MID AF: 0.0222

Gnomad NFE AF: 0.0303

Gnomad OTH AF: 0.0454

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

GnomAD4 genome AF: 0.0417 AC: 6353 AN: 152276 Hom.: 158 Cov.: 32 AF XY: 0.0413 AC XY: 3074 AN XY: 74452

African (AFR) AF: 0.0742 AC: 3082 AN: 41546

American (AMR) AF: 0.0154 AC: 236 AN: 15306

Ashkenazi Jewish (ASJ) AF: 0.0150 AC: 52 AN: 3472

East Asian (EAS) AF: 0.0247 AC: 128 AN: 5176

South Asian (SAS) AF: 0.0245 AC: 118 AN: 4824

European-Finnish (FIN) AF: 0.0463 AC: 491 AN: 10600

Middle Eastern (MID) AF: 0.0204 AC: 6 AN: 294

European-Non Finnish (NFE) AF: 0.0303 AC: 2064 AN: 68032

Other (OTH) AF: 0.0449 AC: 95 AN: 2114

Alfa AF: 0.0354 Hom.: 181

Bravo AF: 0.0407

Asia WGS AF: 0.0310 AC: 110 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.16
DANN	Benign	0.74
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs8066099; hg19: chr17-14889925;