rs9282626

Variant names:

• chr11-34437971-T-C
• rs9282626

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 0.0453 in 152,300 control chromosomes in the GnomAD database, including 164 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 0.045 (164 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0400

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0607 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: 0.0452 AC: 6882 AN: 152184 Hom.: 163 Cov.: 32

Gnomad AFR AF: 0.0624

Gnomad AMI AF: 0.0296

Gnomad AMR AF: 0.0331

Gnomad ASJ AF: 0.0926

Gnomad EAS AF: 0.000769

Gnomad SAS AF: 0.0238

Gnomad FIN AF: 0.0208

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.0435

Gnomad OTH AF: 0.0531

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

GnomAD4 genome AF: 0.0453 AC: 6901 AN: 152300 Hom.: 164 Cov.: 32 AF XY: 0.0432 AC XY: 3220 AN XY: 74490

Gnomad4 AFR AF: 0.0627

Gnomad4 AMR AF: 0.0331

Gnomad4 ASJ AF: 0.0926

Gnomad4 EAS AF: 0.000770

Gnomad4 SAS AF: 0.0242

Gnomad4 FIN AF: 0.0208

Gnomad4 NFE AF: 0.0435

Gnomad4 OTH AF: 0.0526

Alfa AF: 0.0448 Hom.: 105

Bravo AF: 0.0472

Asia WGS AF: 0.0160 AC: 55 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	2.0
DANN	Benign	0.72

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9282626; hg19: chr11-34459518;