rs1813026

chr8-91942210-G-Achr8-91942210-G-C

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.723

Gnomad4 AMR AF: 0.679

Gnomad4 ASJ AF: 0.641

Gnomad4 EAS AF: 0.858

Gnomad4 SAS AF: 0.777

Gnomad4 FIN AF: 0.452

Gnomad4 NFE AF: 0.484

Gnomad4 OTH AF: 0.617

Alfa AF: 0.534 Hom.: 2796

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1813026; hg19: chr8-92954438;