rs17447545

Variant names:

• chr20-45918429-A-G
• rs17447545

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 0.197 in 121,010 control chromosomes in the GnomAD database, including 2,320 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 0.20 (2320 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.182

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.226 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: 0.197 AC: 23770 AN: 120908 Hom.: 2314 Cov.: 30

Gnomad AFR AF: 0.223

Gnomad AMI AF: 0.216

Gnomad AMR AF: 0.147

Gnomad ASJ AF: 0.233

Gnomad EAS AF: 0.0260

Gnomad SAS AF: 0.238

Gnomad FIN AF: 0.156

Gnomad MID AF: 0.183

Gnomad NFE AF: 0.210

Gnomad OTH AF: 0.196

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

GnomAD4 genome AF: 0.197 AC: 23798 AN: 121010 Hom.: 2320 Cov.: 30 AF XY: 0.194 AC XY: 11589 AN XY: 59756

Gnomad4 AFR AF: 0.224

Gnomad4 AMR AF: 0.147

Gnomad4 ASJ AF: 0.233

Gnomad4 EAS AF: 0.0258

Gnomad4 SAS AF: 0.239

Gnomad4 FIN AF: 0.156

Gnomad4 NFE AF: 0.210

Gnomad4 OTH AF: 0.197

Alfa AF: 0.180 Hom.: 4049

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.2
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17447545; hg19: chr20-44547068;