rs9321354

Variant names:

• chr6-132584048-C-A
• rs9321354

Your query was ambiguous. Multiple possible variants found:

• chr6-132584048-C-A
• chr6-132584048-C-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 0.212 in 152,064 control chromosomes in the GnomAD database, including 4,348 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 0.21 (4348 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.185

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.345 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: 0.212 AC: 32155 AN: 151946 Hom.: 4334 Cov.: 32

Gnomad AFR AF: 0.350

Gnomad AMI AF: 0.184

Gnomad AMR AF: 0.253

Gnomad ASJ AF: 0.192

Gnomad EAS AF: 0.326

Gnomad SAS AF: 0.349

Gnomad FIN AF: 0.0849

Gnomad MID AF: 0.275

Gnomad NFE AF: 0.120

Gnomad OTH AF: 0.243

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

GnomAD4 genome AF: 0.212 AC: 32202 AN: 152064 Hom.: 4348 Cov.: 32 AF XY: 0.216 AC XY: 16048 AN XY: 74336

Gnomad4 AFR AF: 0.350

Gnomad4 AMR AF: 0.252

Gnomad4 ASJ AF: 0.192

Gnomad4 EAS AF: 0.326

Gnomad4 SAS AF: 0.348

Gnomad4 FIN AF: 0.0849

Gnomad4 NFE AF: 0.120

Gnomad4 OTH AF: 0.246

Alfa AF: 0.144 Hom.: 2513

Bravo AF: 0.226

Asia WGS AF: 0.366 AC: 1269 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	0.91
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9321354; hg19: chr6-132905187;