rs8066468

Variant names:

• chr17-55381043-A-C
• rs8066468

Your query was ambiguous. Multiple possible variants found:

• chr17-55381043-A-C
• chr17-55381043-A-G
• chr17-55381043-A-T

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 0.736 in 152,130 control chromosomes in the GnomAD database, including 42,105 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 0.74 (42105 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.74
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.896 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: 0.735 AC: 111794 AN: 152010 Hom.: 42031 Cov.: 32

Gnomad AFR AF: 0.904

Gnomad AMI AF: 0.599

Gnomad AMR AF: 0.695

Gnomad ASJ AF: 0.604

Gnomad EAS AF: 0.876

Gnomad SAS AF: 0.700

Gnomad FIN AF: 0.672

Gnomad MID AF: 0.576

Gnomad NFE AF: 0.654

Gnomad OTH AF: 0.693

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

GnomAD4 genome AF: 0.736 AC: 111933 AN: 152130 Hom.: 42105 Cov.: 32 AF XY: 0.735 AC XY: 54625 AN XY: 74362

African (AFR) AF: 0.904 AC: 37546 AN: 41538

American (AMR) AF: 0.696 AC: 10633 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.604 AC: 2097 AN: 3470

East Asian (EAS) AF: 0.875 AC: 4525 AN: 5170

South Asian (SAS) AF: 0.699 AC: 3370 AN: 4822

European-Finnish (FIN) AF: 0.672 AC: 7099 AN: 10562

Middle Eastern (MID) AF: 0.592 AC: 174 AN: 294

European-Non Finnish (NFE) AF: 0.654 AC: 44470 AN: 67966

Other (OTH) AF: 0.696 AC: 1473 AN: 2116

Alfa AF: 0.675 Hom.: 153162

Bravo AF: 0.744

Asia WGS AF: 0.816 AC: 2834 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.24
DANN	Benign	0.56
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs8066468; hg19: chr17-53458404;