rs17091872

Variant names:

• chr8-19974466-G-A
• rs17091872

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 0.191 in 151,998 control chromosomes in the GnomAD database, including 2,820 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 0.19 (2820 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.103
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.195 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: 0.191 AC: 29021 AN: 151880 Hom.: 2815 Cov.: 31

Gnomad AFR AF: 0.199

Gnomad AMI AF: 0.249

Gnomad AMR AF: 0.194

Gnomad ASJ AF: 0.251

Gnomad EAS AF: 0.0979

Gnomad SAS AF: 0.171

Gnomad FIN AF: 0.176

Gnomad MID AF: 0.225

Gnomad NFE AF: 0.192

Gnomad OTH AF: 0.190

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

GnomAD4 genome AF: 0.191 AC: 29050 AN: 151998 Hom.: 2820 Cov.: 31 AF XY: 0.190 AC XY: 14102 AN XY: 74284

African (AFR) AF: 0.199 AC: 8248 AN: 41434

American (AMR) AF: 0.194 AC: 2957 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.251 AC: 871 AN: 3472

East Asian (EAS) AF: 0.0979 AC: 506 AN: 5168

South Asian (SAS) AF: 0.172 AC: 824 AN: 4804

European-Finnish (FIN) AF: 0.176 AC: 1861 AN: 10560

Middle Eastern (MID) AF: 0.231 AC: 68 AN: 294

European-Non Finnish (NFE) AF: 0.193 AC: 13084 AN: 67968

Other (OTH) AF: 0.191 AC: 404 AN: 2112

Alfa AF: 0.191 Hom.: 5681

Bravo AF: 0.192

Asia WGS AF: 0.158 AC: 547 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.5
DANN	Benign	0.57
PhyloP100		-0.10

Splicing

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

Other links and lift over

dbSNP: rs17091872; hg19: chr8-19831977;