rs9276832

Positions:

• chr6-32864623-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 0.29 in 152,108 control chromosomes in the GnomAD database, including 6,624 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 0.29 (6624 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.283

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.327 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.290 AC: 44125 AN: 151990 Hom.: 6628 Cov.: 32

Gnomad AFR AF: 0.253

Gnomad AMI AF: 0.361

Gnomad AMR AF: 0.265

Gnomad ASJ AF: 0.262

Gnomad EAS AF: 0.196

Gnomad SAS AF: 0.226

Gnomad FIN AF: 0.287

Gnomad MID AF: 0.411

Gnomad NFE AF: 0.330

Gnomad OTH AF: 0.302

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

GnomAD4 genome AF: 0.290 AC: 44128 AN: 152108 Hom.: 6624 Cov.: 32 AF XY: 0.285 AC XY: 21164 AN XY: 74344

Gnomad4 AFR AF: 0.253

Gnomad4 AMR AF: 0.264

Gnomad4 ASJ AF: 0.262

Gnomad4 EAS AF: 0.197

Gnomad4 SAS AF: 0.225

Gnomad4 FIN AF: 0.287

Gnomad4 NFE AF: 0.330

Gnomad4 OTH AF: 0.299

Alfa AF: 0.310 Hom.: 950

Bravo AF: 0.288

Asia WGS AF: 0.240 AC: 837 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	8.3
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: rs9276832; hg19: chr6-32832400;