rs9822602

Variant names:

• chr3-126976937-A-G
• rs9822602

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 0.414 in 152,124 control chromosomes in the GnomAD database, including 14,738 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 0.41 (14738 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.527
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.641 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: 0.414 AC: 62942 AN: 152006 Hom.: 14712 Cov.: 33

Gnomad AFR AF: 0.647

Gnomad AMI AF: 0.342

Gnomad AMR AF: 0.365

Gnomad ASJ AF: 0.332

Gnomad EAS AF: 0.413

Gnomad SAS AF: 0.391

Gnomad FIN AF: 0.309

Gnomad MID AF: 0.408

Gnomad NFE AF: 0.307

Gnomad OTH AF: 0.399

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

GnomAD4 genome AF: 0.414 AC: 63017 AN: 152124 Hom.: 14738 Cov.: 33 AF XY: 0.412 AC XY: 30653 AN XY: 74360

African (AFR) AF: 0.648 AC: 26872 AN: 41490

American (AMR) AF: 0.364 AC: 5569 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.332 AC: 1154 AN: 3472

East Asian (EAS) AF: 0.412 AC: 2130 AN: 5166

South Asian (SAS) AF: 0.391 AC: 1884 AN: 4824

European-Finnish (FIN) AF: 0.309 AC: 3272 AN: 10586

Middle Eastern (MID) AF: 0.412 AC: 121 AN: 294

European-Non Finnish (NFE) AF: 0.307 AC: 20866 AN: 67986

Other (OTH) AF: 0.396 AC: 837 AN: 2112

Alfa AF: 0.375 Hom.: 2014

Bravo AF: 0.428

Asia WGS AF: 0.415 AC: 1447 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	3.3
DANN	Benign	0.70
PhyloP100		0.53

Splicing

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

Other links and lift over

dbSNP: rs9822602; hg19: chr3-126695780;