8-19994799-C-G

Variant names:

• chr8-19994799-C-G
• rs17411031

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 0.255 in 151,928 control chromosomes in the GnomAD database, including 4,998 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 0.26 (4998 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0240
• Publications: 43 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.264 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: 0.255 AC: 38757 AN: 151810 Hom.: 4998 Cov.: 32

Gnomad AFR AF: 0.240

Gnomad AMI AF: 0.390

Gnomad AMR AF: 0.240

Gnomad ASJ AF: 0.339

Gnomad EAS AF: 0.208

Gnomad SAS AF: 0.250

Gnomad FIN AF: 0.246

Gnomad MID AF: 0.301

Gnomad NFE AF: 0.267

Gnomad OTH AF: 0.251

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

GnomAD4 genome AF: 0.255 AC: 38768 AN: 151928 Hom.: 4998 Cov.: 32 AF XY: 0.255 AC XY: 18910 AN XY: 74250

African (AFR) AF: 0.239 AC: 9913 AN: 41426

American (AMR) AF: 0.240 AC: 3663 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.339 AC: 1177 AN: 3472

East Asian (EAS) AF: 0.207 AC: 1069 AN: 5162

South Asian (SAS) AF: 0.251 AC: 1206 AN: 4806

European-Finnish (FIN) AF: 0.246 AC: 2598 AN: 10542

Middle Eastern (MID) AF: 0.289 AC: 85 AN: 294

European-Non Finnish (NFE) AF: 0.267 AC: 18170 AN: 67952

Other (OTH) AF: 0.252 AC: 531 AN: 2108

Alfa AF: 0.248 Hom.: 565

Bravo AF: 0.252

Asia WGS AF: 0.256 AC: 889 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.0
DANN	Benign	0.67
PhyloP100		0.024

Splicing

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

Other links and lift over

dbSNP: rs17411031; hg19: chr8-19852310;