rs17664823

Variant names:

• chr8-49282626-C-T
• rs17664823

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 0.231 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
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.162 AC: 6704 AN: 41446

American (AMR) AF: 0.280 AC: 4264 AN: 15226

Ashkenazi Jewish (ASJ) AF: 0.366 AC: 1270 AN: 3470

East Asian (EAS) AF: 0.164 AC: 848 AN: 5164

South Asian (SAS) AF: 0.373 AC: 1791 AN: 4804

European-Finnish (FIN) AF: 0.179 AC: 1877 AN: 10500

Middle Eastern (MID) AF: 0.327 AC: 96 AN: 294

European-Non Finnish (NFE) AF: 0.257 AC: 17391 AN: 67798

Other (OTH) AF: 0.272 AC: 574 AN: 2108

Alfa AF: 0.259 Hom.: 9418

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
PhyloP100		0.90

Splicing

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

Other links and lift over

dbSNP: rs17664823; hg19: chr8-50195185;