rs9266095

Variant names:

• chr6-31353550-A-G
• rs9266095

Your query was ambiguous. Multiple possible variants found:

• chr6-31353550-A-G
• chr6-31353550-A-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 0.295 in 152,100 control chromosomes in the GnomAD database, including 6,899 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 0.30 (6899 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.363

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.457 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: 0.295 AC: 44834 AN: 151982 Hom.: 6881 Cov.: 32

Gnomad AFR AF: 0.325

Gnomad AMI AF: 0.245

Gnomad AMR AF: 0.316

Gnomad ASJ AF: 0.310

Gnomad EAS AF: 0.472

Gnomad SAS AF: 0.367

Gnomad FIN AF: 0.364

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.242

Gnomad OTH AF: 0.312

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

GnomAD4 genome AF: 0.295 AC: 44880 AN: 152100 Hom.: 6899 Cov.: 32 AF XY: 0.304 AC XY: 22589 AN XY: 74358

Gnomad4 AFR AF: 0.325

Gnomad4 AMR AF: 0.316

Gnomad4 ASJ AF: 0.310

Gnomad4 EAS AF: 0.472

Gnomad4 SAS AF: 0.368

Gnomad4 FIN AF: 0.364

Gnomad4 NFE AF: 0.242

Gnomad4 OTH AF: 0.313

Alfa AF: 0.262 Hom.: 843

Bravo AF: 0.291

Asia WGS AF: 0.342 AC: 1188 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	9.3
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9266095; hg19: chr6-31321327;