rs17098318

Variant names:

• chr11-102532127-G-A
• rs17098318

Your query was ambiguous. Multiple possible variants found:

• chr11-102532127-G-A
• chr11-102532127-G-T

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 0.329 in 152,062 control chromosomes in the GnomAD database, including 8,546 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 0.33 (8546 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0640
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.392 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: 0.329 AC: 49991 AN: 151944 Hom.: 8535 Cov.: 32

Gnomad AFR AF: 0.397

Gnomad AMI AF: 0.508

Gnomad AMR AF: 0.283

Gnomad ASJ AF: 0.275

Gnomad EAS AF: 0.0739

Gnomad SAS AF: 0.363

Gnomad FIN AF: 0.279

Gnomad MID AF: 0.367

Gnomad NFE AF: 0.323

Gnomad OTH AF: 0.332

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

GnomAD4 genome AF: 0.329 AC: 50034 AN: 152062 Hom.: 8546 Cov.: 32 AF XY: 0.328 AC XY: 24408 AN XY: 74346

African (AFR) AF: 0.397 AC: 16461 AN: 41464

American (AMR) AF: 0.283 AC: 4327 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.275 AC: 952 AN: 3464

East Asian (EAS) AF: 0.0737 AC: 382 AN: 5186

South Asian (SAS) AF: 0.361 AC: 1740 AN: 4820

European-Finnish (FIN) AF: 0.279 AC: 2949 AN: 10560

Middle Eastern (MID) AF: 0.378 AC: 111 AN: 294

European-Non Finnish (NFE) AF: 0.323 AC: 21958 AN: 67968

Other (OTH) AF: 0.328 AC: 691 AN: 2108

Alfa AF: 0.321 Hom.: 9957

Bravo AF: 0.334

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.77
DANN	Benign	0.48
PhyloP100		-0.064

Splicing

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

Other links and lift over

dbSNP: rs17098318; hg19: chr11-102402858;