rs804276

Variant names:

• chr8-11767499-G-A
• rs804276

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 0.367 in 151,952 control chromosomes in the GnomAD database, including 11,519 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 0.37 (11519 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0900
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.537 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: 0.367 AC: 55731 AN: 151834 Hom.: 11512 Cov.: 33

Gnomad AFR AF: 0.175

Gnomad AMI AF: 0.516

Gnomad AMR AF: 0.423

Gnomad ASJ AF: 0.297

Gnomad EAS AF: 0.554

Gnomad SAS AF: 0.494

Gnomad FIN AF: 0.484

Gnomad MID AF: 0.328

Gnomad NFE AF: 0.431

Gnomad OTH AF: 0.361

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

GnomAD4 genome AF: 0.367 AC: 55747 AN: 151952 Hom.: 11519 Cov.: 33 AF XY: 0.376 AC XY: 27937 AN XY: 74260

African (AFR) AF: 0.175 AC: 7251 AN: 41406

American (AMR) AF: 0.423 AC: 6458 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.297 AC: 1032 AN: 3472

East Asian (EAS) AF: 0.554 AC: 2863 AN: 5170

South Asian (SAS) AF: 0.494 AC: 2382 AN: 4826

European-Finnish (FIN) AF: 0.484 AC: 5099 AN: 10538

Middle Eastern (MID) AF: 0.329 AC: 96 AN: 292

European-Non Finnish (NFE) AF: 0.432 AC: 29317 AN: 67940

Other (OTH) AF: 0.368 AC: 778 AN: 2116

Alfa AF: 0.420 Hom.: 5870

Bravo AF: 0.351

Asia WGS AF: 0.506 AC: 1758 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	2.1
DANN	Benign	0.82
PhyloP100		0.090

Splicing

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

Other links and lift over

dbSNP: rs804276; hg19: chr8-11625008;