rs9276726

Variant names:

• chr6-32796111-T-C
• rs9276726

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.337 in 151,010 control chromosomes in the GnomAD database, including 8,693 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 0.34 (8693 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.906
• Publications: 20 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.373 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.337 AC: 50844 AN: 150894 Hom.: 8688 Cov.: 31

Gnomad AFR AF: 0.356

Gnomad AMI AF: 0.267

Gnomad AMR AF: 0.264

Gnomad ASJ AF: 0.369

Gnomad EAS AF: 0.347

Gnomad SAS AF: 0.389

Gnomad FIN AF: 0.342

Gnomad MID AF: 0.471

Gnomad NFE AF: 0.335

Gnomad OTH AF: 0.344

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

GnomAD4 genome AF: 0.337 AC: 50865 AN: 151010 Hom.: 8693 Cov.: 31 AF XY: 0.337 AC XY: 24829 AN XY: 73762

African (AFR) AF: 0.355 AC: 14679 AN: 41292

American (AMR) AF: 0.263 AC: 3991 AN: 15152

Ashkenazi Jewish (ASJ) AF: 0.369 AC: 1268 AN: 3434

East Asian (EAS) AF: 0.347 AC: 1783 AN: 5142

South Asian (SAS) AF: 0.388 AC: 1816 AN: 4678

European-Finnish (FIN) AF: 0.342 AC: 3571 AN: 10454

Middle Eastern (MID) AF: 0.479 AC: 138 AN: 288

European-Non Finnish (NFE) AF: 0.335 AC: 22654 AN: 67584

Other (OTH) AF: 0.347 AC: 728 AN: 2098

Alfa AF: 0.337 Hom.: 31736

Bravo AF: 0.327

Asia WGS AF: 0.351 AC: 1221 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.6
DANN	Benign	0.58
PhyloP100		0.91

Splicing

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

Other links and lift over

dbSNP: rs9276726; hg19: chr6-32763888;