rs9321611

chr6-137466706-A-G

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 0.345 in 151,926 control chromosomes in the GnomAD database, including 9,869 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 0.35 (9869 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.86

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 = 0.494 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.345 AC: 52394 AN: 151808 Hom.: 9857 Cov.: 31

Gnomad AFR AF: 0.500

Gnomad AMI AF: 0.369

Gnomad AMR AF: 0.386

Gnomad ASJ AF: 0.217

Gnomad EAS AF: 0.218

Gnomad SAS AF: 0.421

Gnomad FIN AF: 0.246

Gnomad MID AF: 0.342

Gnomad NFE AF: 0.268

Gnomad OTH AF: 0.349

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

GnomAD4 genome AF: 0.345 AC: 52449 AN: 151926 Hom.: 9869 Cov.: 31 AF XY: 0.344 AC XY: 25582 AN XY: 74276

Gnomad4 AFR AF: 0.500

Gnomad4 AMR AF: 0.386

Gnomad4 ASJ AF: 0.217

Gnomad4 EAS AF: 0.217

Gnomad4 SAS AF: 0.421

Gnomad4 FIN AF: 0.246

Gnomad4 NFE AF: 0.268

Gnomad4 OTH AF: 0.354

Alfa AF: 0.313 Hom.: 1430

Bravo AF: 0.358

Asia WGS AF: 0.360 AC: 1249 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	0.071
Dann	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9321611; hg19: chr6-137787843; COSMIC: COSV50691339;