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. The variant received -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
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.0371 AC: 1540 AN: 41504

American (AMR) AF: 0.196 AC: 2988 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.0885 AC: 307 AN: 3468

East Asian (EAS) AF: 0.0974 AC: 504 AN: 5172

South Asian (SAS) AF: 0.135 AC: 648 AN: 4812

European-Finnish (FIN) AF: 0.102 AC: 1076 AN: 10548

Middle Eastern (MID) AF: 0.102 AC: 30 AN: 294

European-Non Finnish (NFE) AF: 0.0940 AC: 6388 AN: 67986

Other (OTH) AF: 0.110 AC: 232 AN: 2108

Alfa AF: 0.0944 Hom.: 819

Bravo AF: 0.0966

Asia WGS AF: 0.122 AC: 425 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.23
DANN	Benign	0.43
PhyloP100		-3.4

Splicing

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

Other links and lift over

dbSNP: rs1467288; hg19: chr17-34389418;