rs2623047

Variant names:

• chr8-69466261-A-G
• rs2623047

Your query was ambiguous. Multiple possible variants found:

• chr8-69466261-A-G
• chr8-69466261-A-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.473 in 151,998 control chromosomes in the GnomAD database, including 17,906 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 0.47 (17906 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.16

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.46).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.618 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: 0.473 AC: 71774 AN: 151880 Hom.: 17865 Cov.: 32

Gnomad AFR AF: 0.623

Gnomad AMI AF: 0.452

Gnomad AMR AF: 0.438

Gnomad ASJ AF: 0.396

Gnomad EAS AF: 0.635

Gnomad SAS AF: 0.365

Gnomad FIN AF: 0.396

Gnomad MID AF: 0.358

Gnomad NFE AF: 0.401

Gnomad OTH AF: 0.462

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

GnomAD4 genome AF: 0.473 AC: 71867 AN: 151998 Hom.: 17906 Cov.: 32 AF XY: 0.472 AC XY: 35070 AN XY: 74286

Gnomad4 AFR AF: 0.624

Gnomad4 AMR AF: 0.438

Gnomad4 ASJ AF: 0.396

Gnomad4 EAS AF: 0.635

Gnomad4 SAS AF: 0.364

Gnomad4 FIN AF: 0.396

Gnomad4 NFE AF: 0.401

Gnomad4 OTH AF: 0.462

Alfa AF: 0.418 Hom.: 13659

Bravo AF: 0.492

Asia WGS AF: 0.521 AC: 1810 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.46
CADD	Benign	18
DANN	Benign	0.82

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2623047; hg19: chr8-70378496;