rs17830215

Variant names:

• chr8-1966586-C-T
• rs17830215

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 0.43 in 152,026 control chromosomes in the GnomAD database, including 15,010 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 0.43 (15010 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.134
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.506 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.430 AC: 65297 AN: 151906 Hom.: 15000 Cov.: 33

Gnomad AFR AF: 0.288

Gnomad AMI AF: 0.425

Gnomad AMR AF: 0.342

Gnomad ASJ AF: 0.503

Gnomad EAS AF: 0.494

Gnomad SAS AF: 0.512

Gnomad FIN AF: 0.502

Gnomad MID AF: 0.484

Gnomad NFE AF: 0.510

Gnomad OTH AF: 0.425

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

GnomAD4 genome AF: 0.430 AC: 65325 AN: 152026 Hom.: 15010 Cov.: 33 AF XY: 0.429 AC XY: 31907 AN XY: 74312

African (AFR) AF: 0.288 AC: 11933 AN: 41474

American (AMR) AF: 0.342 AC: 5220 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.503 AC: 1745 AN: 3470

East Asian (EAS) AF: 0.493 AC: 2543 AN: 5160

South Asian (SAS) AF: 0.512 AC: 2468 AN: 4816

European-Finnish (FIN) AF: 0.502 AC: 5308 AN: 10568

Middle Eastern (MID) AF: 0.486 AC: 142 AN: 292

European-Non Finnish (NFE) AF: 0.510 AC: 34671 AN: 67964

Other (OTH) AF: 0.431 AC: 909 AN: 2108

Alfa AF: 0.478 Hom.: 20020

Bravo AF: 0.411

Asia WGS AF: 0.526 AC: 1832 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	5.5
DANN	Benign	0.78
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs17830215; hg19: chr8-1914752;