rs1467288

Variant names:

• chr17-36062058-G-A
• rs1467288

Your query was ambiguous. Multiple possible variants found:

• chr17-36062058-G-A
• chr17-36062058-G-C
• chr17-36062058-G-T

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 0.0906 in 152,078 control chromosomes in the GnomAD database, including 806 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 0.091 (806 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.42

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.19 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: 0.0904 AC: 13740 AN: 151962 Hom.: 796 Cov.: 32

Gnomad AFR AF: 0.0370

Gnomad AMI AF: 0.0647

Gnomad AMR AF: 0.195

Gnomad ASJ AF: 0.0885

Gnomad EAS AF: 0.0980

Gnomad SAS AF: 0.135

Gnomad FIN AF: 0.102

Gnomad MID AF: 0.101

Gnomad NFE AF: 0.0939

Gnomad OTH AF: 0.104

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

GnomAD4 genome AF: 0.0906 AC: 13772 AN: 152078 Hom.: 806 Cov.: 32 AF XY: 0.0932 AC XY: 6926 AN XY: 74318

Gnomad4 AFR AF: 0.0371

Gnomad4 AMR AF: 0.196

Gnomad4 ASJ AF: 0.0885

Gnomad4 EAS AF: 0.0974

Gnomad4 SAS AF: 0.135

Gnomad4 FIN AF: 0.102

Gnomad4 NFE AF: 0.0940

Gnomad4 OTH AF: 0.110

Alfa AF: 0.0898 Hom.: 372

Bravo AF: 0.0966

Asia WGS AF: 0.122 AC: 425 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	0.23
DANN	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1467288; hg19: chr17-34389418;