rs17083598

Variant names:

• chr6-121425324-G-A
• rs17083598

Your query was ambiguous. Multiple possible variants found:

• chr6-121425324-G-A
• chr6-121425324-G-C

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 0.0858 in 152,098 control chromosomes in the GnomAD database, including 703 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 0.086 (703 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.281
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.222 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: 0.0859 AC: 13060 AN: 151980 Hom.: 705 Cov.: 32

Gnomad AFR AF: 0.0831

Gnomad AMI AF: 0.0329

Gnomad AMR AF: 0.132

Gnomad ASJ AF: 0.0596

Gnomad EAS AF: 0.233

Gnomad SAS AF: 0.0545

Gnomad FIN AF: 0.129

Gnomad MID AF: 0.0285

Gnomad NFE AF: 0.0642

Gnomad OTH AF: 0.0794

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

GnomAD4 genome AF: 0.0858 AC: 13054 AN: 152098 Hom.: 703 Cov.: 32 AF XY: 0.0906 AC XY: 6731 AN XY: 74334

African (AFR) AF: 0.0829 AC: 3442 AN: 41504

American (AMR) AF: 0.132 AC: 2012 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.0596 AC: 207 AN: 3472

East Asian (EAS) AF: 0.233 AC: 1198 AN: 5152

South Asian (SAS) AF: 0.0535 AC: 258 AN: 4818

European-Finnish (FIN) AF: 0.129 AC: 1365 AN: 10562

Middle Eastern (MID) AF: 0.0272 AC: 8 AN: 294

European-Non Finnish (NFE) AF: 0.0642 AC: 4366 AN: 67998

Other (OTH) AF: 0.0795 AC: 168 AN: 2112

Alfa AF: 0.0691 Hom.: 1399

Bravo AF: 0.0901

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.97
DANN	Benign	0.56
PhyloP100		0.28

Splicing

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

Other links and lift over

dbSNP: rs17083598; hg19: chr6-121746470;