rs1813026

Variant names:

• chr8-91942210-G-A
• rs1813026

Your query was ambiguous. Multiple possible variants found:

• chr8-91942210-G-A
• chr8-91942210-G-C

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 0.594 in 151,974 control chromosomes in the GnomAD database, including 28,013 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 0.59 (28013 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.609
• Publications: 0 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 = 0.837 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: 0.594 AC: 90221 AN: 151854 Hom.: 27965 Cov.: 32

Gnomad AFR AF: 0.722

Gnomad AMI AF: 0.471

Gnomad AMR AF: 0.679

Gnomad ASJ AF: 0.641

Gnomad EAS AF: 0.858

Gnomad SAS AF: 0.778

Gnomad FIN AF: 0.452

Gnomad MID AF: 0.654

Gnomad NFE AF: 0.484

Gnomad OTH AF: 0.611

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

GnomAD4 genome AF: 0.594 AC: 90327 AN: 151974 Hom.: 28013 Cov.: 32 AF XY: 0.602 AC XY: 44689 AN XY: 74290

African (AFR) AF: 0.723 AC: 29968 AN: 41468

American (AMR) AF: 0.679 AC: 10379 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.641 AC: 2220 AN: 3466

East Asian (EAS) AF: 0.858 AC: 4420 AN: 5152

South Asian (SAS) AF: 0.777 AC: 3742 AN: 4816

European-Finnish (FIN) AF: 0.452 AC: 4771 AN: 10560

Middle Eastern (MID) AF: 0.662 AC: 192 AN: 290

European-Non Finnish (NFE) AF: 0.484 AC: 32901 AN: 67920

Other (OTH) AF: 0.617 AC: 1304 AN: 2112

Alfa AF: 0.541 Hom.: 2997

Bravo AF: 0.612

Asia WGS AF: 0.816 AC: 2834 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	5.6
DANN	Benign	0.67
PhyloP100		0.61

Splicing

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

Other links and lift over

dbSNP: rs1813026; hg19: chr8-92954438;