chr8-26733785-A-G

Variant names:

• chr8-26733785-A-G
• rs1965328

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 0.623 in 151,846 control chromosomes in the GnomAD database, including 30,426 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 0.62 (30426 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.426
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.7 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: 0.623 AC: 94602 AN: 151728 Hom.: 30429 Cov.: 30

Gnomad AFR AF: 0.472

Gnomad AMI AF: 0.564

Gnomad AMR AF: 0.599

Gnomad ASJ AF: 0.618

Gnomad EAS AF: 0.567

Gnomad SAS AF: 0.609

Gnomad FIN AF: 0.769

Gnomad MID AF: 0.592

Gnomad NFE AF: 0.705

Gnomad OTH AF: 0.613

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

GnomAD4 genome AF: 0.623 AC: 94624 AN: 151846 Hom.: 30426 Cov.: 30 AF XY: 0.626 AC XY: 46456 AN XY: 74234

African (AFR) AF: 0.472 AC: 19524 AN: 41384

American (AMR) AF: 0.598 AC: 9120 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.618 AC: 2145 AN: 3472

East Asian (EAS) AF: 0.568 AC: 2926 AN: 5152

South Asian (SAS) AF: 0.608 AC: 2918 AN: 4798

European-Finnish (FIN) AF: 0.769 AC: 8118 AN: 10556

Middle Eastern (MID) AF: 0.582 AC: 171 AN: 294

European-Non Finnish (NFE) AF: 0.705 AC: 47906 AN: 67926

Other (OTH) AF: 0.611 AC: 1284 AN: 2102

Alfa AF: 0.670 Hom.: 116819

Bravo AF: 0.602

Asia WGS AF: 0.581 AC: 2020 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	4.0
DANN	Benign	0.54
PhyloP100		0.43

Splicing

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

Other links and lift over

dbSNP: rs1965328; hg19: chr8-26591302;