rs17066681

Variant names:

• chr6-137652212-G-A
• rs17066681

Your query was ambiguous. Multiple possible variants found:

• chr6-137652212-G-A
• chr6-137652212-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 0.0891 in 152,228 control chromosomes in the GnomAD database, including 646 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 0.089 (646 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.690

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.103 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: 0.0890 AC: 13543 AN: 152110 Hom.: 642 Cov.: 31

Gnomad AFR AF: 0.0936

Gnomad AMI AF: 0.144

Gnomad AMR AF: 0.107

Gnomad ASJ AF: 0.137

Gnomad EAS AF: 0.00154

Gnomad SAS AF: 0.0711

Gnomad FIN AF: 0.0835

Gnomad MID AF: 0.0696

Gnomad NFE AF: 0.0880

Gnomad OTH AF: 0.0890

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

GnomAD4 genome AF: 0.0891 AC: 13558 AN: 152228 Hom.: 646 Cov.: 31 AF XY: 0.0893 AC XY: 6644 AN XY: 74432

Gnomad4 AFR AF: 0.0934

Gnomad4 AMR AF: 0.107

Gnomad4 ASJ AF: 0.137

Gnomad4 EAS AF: 0.00154

Gnomad4 SAS AF: 0.0720

Gnomad4 FIN AF: 0.0835

Gnomad4 NFE AF: 0.0880

Gnomad4 OTH AF: 0.0885

Alfa AF: 0.0754 Hom.: 156

Bravo AF: 0.0927

Asia WGS AF: 0.0420 AC: 146 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	5.1
DANN	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17066681; hg19: chr6-137973349;