rs9276832

Variant names:

• chr6-32864623-C-T
• rs9276832

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 0.29 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
• Publications: 9 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

African (AFR) AF: 0.253 AC: 10513 AN: 41484

American (AMR) AF: 0.264 AC: 4045 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.262 AC: 910 AN: 3472

East Asian (EAS) AF: 0.197 AC: 1020 AN: 5178

South Asian (SAS) AF: 0.225 AC: 1084 AN: 4828

European-Finnish (FIN) AF: 0.287 AC: 3027 AN: 10550

Middle Eastern (MID) AF: 0.398 AC: 117 AN: 294

European-Non Finnish (NFE) AF: 0.330 AC: 22454 AN: 67986

Other (OTH) AF: 0.299 AC: 630 AN: 2110

Alfa AF: 0.308 Hom.: 973

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
PhyloP100		0.28

Splicing

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

Other links and lift over

dbSNP: rs9276832; hg19: chr6-32832400;