rs8066468

Positions:

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

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 0.736 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.904

Gnomad4 AMR AF: 0.696

Gnomad4 ASJ AF: 0.604

Gnomad4 EAS AF: 0.875

Gnomad4 SAS AF: 0.699

Gnomad4 FIN AF: 0.672

Gnomad4 NFE AF: 0.654

Gnomad4 OTH AF: 0.696

Alfa AF: 0.660 Hom.: 66491

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8066468; hg19: chr17-53458404;