rs17157266

Variant names:

• chr11-62432345-T-C
• rs17157266

Your query was ambiguous. Multiple possible variants found:

• chr11-62432345-T-C
• chr11-62432345-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.147 in 152,076 control chromosomes in the GnomAD database, including 2,031 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 0.15 (2031 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.392

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.332 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: 0.147 AC: 22323 AN: 151958 Hom.: 2025 Cov.: 30

Gnomad AFR AF: 0.0448

Gnomad AMI AF: 0.226

Gnomad AMR AF: 0.191

Gnomad ASJ AF: 0.175

Gnomad EAS AF: 0.263

Gnomad SAS AF: 0.346

Gnomad FIN AF: 0.144

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.174

Gnomad OTH AF: 0.151

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

GnomAD4 genome AF: 0.147 AC: 22339 AN: 152076 Hom.: 2031 Cov.: 30 AF XY: 0.150 AC XY: 11169 AN XY: 74336

Gnomad4 AFR AF: 0.0449

Gnomad4 AMR AF: 0.191

Gnomad4 ASJ AF: 0.175

Gnomad4 EAS AF: 0.264

Gnomad4 SAS AF: 0.346

Gnomad4 FIN AF: 0.144

Gnomad4 NFE AF: 0.174

Gnomad4 OTH AF: 0.157

Alfa AF: 0.171 Hom.: 1382

Bravo AF: 0.142

Asia WGS AF: 0.279 AC: 968 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.8
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17157266; hg19: chr11-62199817;