rs9466930

Variant names:

• chr6-23840904-C-G
• rs9466930

Your query was ambiguous. Multiple possible variants found:

• chr6-23840904-C-G
• chr6-23840904-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 0.717 in 152,074 control chromosomes in the GnomAD database, including 39,475 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 0.72 (39475 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.910

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 (NFE) allele frequency at 95% confidence interval = 0.778 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: 0.717 AC: 108978 AN: 151956 Hom.: 39464 Cov.: 32

Gnomad AFR AF: 0.633

Gnomad AMI AF: 0.825

Gnomad AMR AF: 0.671

Gnomad ASJ AF: 0.797

Gnomad EAS AF: 0.531

Gnomad SAS AF: 0.730

Gnomad FIN AF: 0.729

Gnomad MID AF: 0.825

Gnomad NFE AF: 0.783

Gnomad OTH AF: 0.745

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

GnomAD4 genome AF: 0.717 AC: 109029 AN: 152074 Hom.: 39475 Cov.: 32 AF XY: 0.717 AC XY: 53283 AN XY: 74336

Gnomad4 AFR AF: 0.633

Gnomad4 AMR AF: 0.671

Gnomad4 ASJ AF: 0.797

Gnomad4 EAS AF: 0.530

Gnomad4 SAS AF: 0.730

Gnomad4 FIN AF: 0.729

Gnomad4 NFE AF: 0.783

Gnomad4 OTH AF: 0.740

Alfa AF: 0.746 Hom.: 5019

Bravo AF: 0.704

Asia WGS AF: 0.626 AC: 2178 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	4.8
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9466930; hg19: chr6-23841132;