rs7033283

Variant names:

• chr9-99095772-G-A
• rs7033283

Your query was ambiguous. Multiple possible variants found:

• chr9-99095772-G-A
• chr9-99095772-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 0.08 in 152,192 control chromosomes in the GnomAD database, including 570 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 0.080 (570 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0570

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0926 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: 0.0800 AC: 12161 AN: 152074 Hom.: 572 Cov.: 33

Gnomad AFR AF: 0.0612

Gnomad AMI AF: 0.0844

Gnomad AMR AF: 0.0589

Gnomad ASJ AF: 0.0793

Gnomad EAS AF: 0.0322

Gnomad SAS AF: 0.0427

Gnomad FIN AF: 0.130

Gnomad MID AF: 0.0854

Gnomad NFE AF: 0.0945

Gnomad OTH AF: 0.0813

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

GnomAD4 genome AF: 0.0800 AC: 12173 AN: 152192 Hom.: 570 Cov.: 33 AF XY: 0.0806 AC XY: 5997 AN XY: 74410

Gnomad4 AFR AF: 0.0613

Gnomad4 AMR AF: 0.0588

Gnomad4 ASJ AF: 0.0793

Gnomad4 EAS AF: 0.0323

Gnomad4 SAS AF: 0.0429

Gnomad4 FIN AF: 0.130

Gnomad4 NFE AF: 0.0946

Gnomad4 OTH AF: 0.0805

Alfa AF: 0.0875 Hom.: 366

Bravo AF: 0.0746

Asia WGS AF: 0.0410 AC: 141 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.5
DANN	Benign	0.56

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7033283; hg19: chr9-101858054;