rs9276807

Variant names:

• chr6-32812379-G-A
• rs9276807

Your query was ambiguous. Multiple possible variants found:

• chr6-32812379-G-A
• chr6-32812379-G-T

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 0.327 in 151,990 control chromosomes in the GnomAD database, including 8,339 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 0.33 (8339 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.689
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.349 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: 0.327 AC: 49712 AN: 151872 Hom.: 8334 Cov.: 32

Gnomad AFR AF: 0.354

Gnomad AMI AF: 0.260

Gnomad AMR AF: 0.253

Gnomad ASJ AF: 0.332

Gnomad EAS AF: 0.318

Gnomad SAS AF: 0.296

Gnomad FIN AF: 0.338

Gnomad MID AF: 0.437

Gnomad NFE AF: 0.329

Gnomad OTH AF: 0.331

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

GnomAD4 genome AF: 0.327 AC: 49733 AN: 151990 Hom.: 8339 Cov.: 32 AF XY: 0.326 AC XY: 24213 AN XY: 74290

African (AFR) AF: 0.354 AC: 14662 AN: 41418

American (AMR) AF: 0.253 AC: 3858 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.332 AC: 1152 AN: 3470

East Asian (EAS) AF: 0.318 AC: 1646 AN: 5176

South Asian (SAS) AF: 0.295 AC: 1417 AN: 4806

European-Finnish (FIN) AF: 0.338 AC: 3576 AN: 10570

Middle Eastern (MID) AF: 0.442 AC: 130 AN: 294

European-Non Finnish (NFE) AF: 0.329 AC: 22350 AN: 67964

Other (OTH) AF: 0.334 AC: 705 AN: 2110

Alfa AF: 0.215 Hom.: 518

Bravo AF: 0.321

Asia WGS AF: 0.305 AC: 1063 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	4.2
DANN	Benign	0.72
PhyloP100		0.69

Splicing

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

Other links and lift over

dbSNP: rs9276807; hg19: chr6-32780156;