rs9325634

Variant names:

• chr21-42398681-A-G
• rs9325634

Your query was ambiguous. Multiple possible variants found:

• chr21-42398681-A-G
• chr21-42398681-A-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 0.43 in 151,998 control chromosomes in the GnomAD database, including 14,248 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 0.43 (14248 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.375

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 (EAS) allele frequency at 95% confidence interval = 0.464 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: 0.430 AC: 65267 AN: 151880 Hom.: 14241 Cov.: 32

Gnomad AFR AF: 0.386

Gnomad AMI AF: 0.393

Gnomad AMR AF: 0.374

Gnomad ASJ AF: 0.494

Gnomad EAS AF: 0.469

Gnomad SAS AF: 0.435

Gnomad FIN AF: 0.391

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.468

Gnomad OTH AF: 0.436

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

GnomAD4 genome AF: 0.430 AC: 65298 AN: 151998 Hom.: 14248 Cov.: 32 AF XY: 0.424 AC XY: 31457 AN XY: 74272

Gnomad4 AFR AF: 0.386

Gnomad4 AMR AF: 0.373

Gnomad4 ASJ AF: 0.494

Gnomad4 EAS AF: 0.468

Gnomad4 SAS AF: 0.436

Gnomad4 FIN AF: 0.391

Gnomad4 NFE AF: 0.468

Gnomad4 OTH AF: 0.433

Alfa AF: 0.455 Hom.: 7671

Bravo AF: 0.424

Asia WGS AF: 0.408 AC: 1416 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	4.0
DANN	Benign	0.63

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9325634; hg19: chr21-43818790;