rs9322676

Variant names:

• chr6-102817684-G-A
• rs9322676

Your query was ambiguous. Multiple possible variants found:

• chr6-102817684-G-A
• chr6-102817684-G-C

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 0.153 in 151,626 control chromosomes in the GnomAD database, including 4,416 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 0.15 (4416 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.189

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 = 0.444 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: 0.153 AC: 23150 AN: 151508 Hom.: 4383 Cov.: 31

Gnomad AFR AF: 0.449

Gnomad AMI AF: 0.0285

Gnomad AMR AF: 0.101

Gnomad ASJ AF: 0.0326

Gnomad EAS AF: 0.0962

Gnomad SAS AF: 0.108

Gnomad FIN AF: 0.0269

Gnomad MID AF: 0.0222

Gnomad NFE AF: 0.0214

Gnomad OTH AF: 0.111

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

GnomAD4 genome AF: 0.153 AC: 23252 AN: 151626 Hom.: 4416 Cov.: 31 AF XY: 0.150 AC XY: 11122 AN XY: 74130

Gnomad4 AFR AF: 0.450

Gnomad4 AMR AF: 0.102

Gnomad4 ASJ AF: 0.0326

Gnomad4 EAS AF: 0.0966

Gnomad4 SAS AF: 0.109

Gnomad4 FIN AF: 0.0269

Gnomad4 NFE AF: 0.0214

Gnomad4 OTH AF: 0.112

Alfa AF: 0.0145 Hom.: 14

Bravo AF: 0.174

Asia WGS AF: 0.144 AC: 499 AN: 3464

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.6
DANN	Benign	0.24

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9322676; hg19: chr6-103265559;