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. The variant received -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
• Publications: 3 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 (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

African (AFR) AF: 0.0613 AC: 2544 AN: 41516

American (AMR) AF: 0.0588 AC: 899 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.0793 AC: 275 AN: 3470

East Asian (EAS) AF: 0.0323 AC: 167 AN: 5168

South Asian (SAS) AF: 0.0429 AC: 207 AN: 4824

European-Finnish (FIN) AF: 0.130 AC: 1377 AN: 10592

Middle Eastern (MID) AF: 0.0850 AC: 25 AN: 294

European-Non Finnish (NFE) AF: 0.0946 AC: 6432 AN: 68014

Other (OTH) AF: 0.0805 AC: 170 AN: 2112

Alfa AF: 0.0879 Hom.: 1203

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
PhyloP100		0.057

Splicing

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

Other links and lift over

dbSNP: rs7033283; hg19: chr9-101858054;