rs17664823

chr8-49282626-C-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 0.231 in 151,722 control chromosomes in the GnomAD database, including 4,292 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 0.23 (4292 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.901

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.358 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: 0.231 AC: 35090 AN: 151602 Hom.: 4285 Cov.: 32

Gnomad AFR AF: 0.162

Gnomad AMI AF: 0.334

Gnomad AMR AF: 0.280

Gnomad ASJ AF: 0.366

Gnomad EAS AF: 0.164

Gnomad SAS AF: 0.373

Gnomad FIN AF: 0.179

Gnomad MID AF: 0.328

Gnomad NFE AF: 0.256

Gnomad OTH AF: 0.271

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

GnomAD4 genome AF: 0.231 AC: 35120 AN: 151722 Hom.: 4292 Cov.: 32 AF XY: 0.231 AC XY: 17124 AN XY: 74112

Gnomad4 AFR AF: 0.162

Gnomad4 AMR AF: 0.280

Gnomad4 ASJ AF: 0.366

Gnomad4 EAS AF: 0.164

Gnomad4 SAS AF: 0.373

Gnomad4 FIN AF: 0.179

Gnomad4 NFE AF: 0.257

Gnomad4 OTH AF: 0.272

Alfa AF: 0.261 Hom.: 7426

Bravo AF: 0.235

Asia WGS AF: 0.290 AC: 1003 AN: 3450

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
Cadd	Benign	4.7
Dann	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17664823; hg19: chr8-50195185;