6-32668766-A-G

Variant names:

• chr6-32668766-A-G
• rs9274666

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 0.574 in 147,760 control chromosomes in the GnomAD database, including 24,926 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 0.57 (24926 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.369

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.717 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: 0.574 AC: 84738 AN: 147638 Hom.: 24914 Cov.: 27

Gnomad AFR AF: 0.595

Gnomad AMI AF: 0.488

Gnomad AMR AF: 0.511

Gnomad ASJ AF: 0.634

Gnomad EAS AF: 0.585

Gnomad SAS AF: 0.736

Gnomad FIN AF: 0.463

Gnomad MID AF: 0.731

Gnomad NFE AF: 0.576

Gnomad OTH AF: 0.620

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

GnomAD4 genome AF: 0.574 AC: 84784 AN: 147760 Hom.: 24926 Cov.: 27 AF XY: 0.568 AC XY: 40964 AN XY: 72128

Gnomad4 AFR AF: 0.594

Gnomad4 AMR AF: 0.511

Gnomad4 ASJ AF: 0.634

Gnomad4 EAS AF: 0.583

Gnomad4 SAS AF: 0.737

Gnomad4 FIN AF: 0.463

Gnomad4 NFE AF: 0.576

Gnomad4 OTH AF: 0.623

Alfa AF: 0.577 Hom.: 4940

Asia WGS AF: 0.714 AC: 2471 AN: 3460

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	3.8
DANN	Benign	0.36

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9274666; hg19: chr6-32636543;