rs1202188

Variant names:

• chr8-81307404-A-G
• rs202292

Your query was ambiguous. Multiple possible variants found:

• chr8-81307404-A-G
• chr8-81307404-A-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 0.754 in 152,170 control chromosomes in the GnomAD database, including 46,310 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 0.75 (46310 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.240

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 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: 0.755 AC: 114771 AN: 152052 Hom.: 46308 Cov.: 33

Gnomad AFR AF: 0.437

Gnomad AMI AF: 0.885

Gnomad AMR AF: 0.846

Gnomad ASJ AF: 0.859

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.875

Gnomad FIN AF: 0.904

Gnomad MID AF: 0.851

Gnomad NFE AF: 0.869

Gnomad OTH AF: 0.791

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

GnomAD4 genome AF: 0.754 AC: 114797 AN: 152170 Hom.: 46310 Cov.: 33 AF XY: 0.761 AC XY: 56659 AN XY: 74410

Gnomad4 AFR AF: 0.436

Gnomad4 AMR AF: 0.846

Gnomad4 ASJ AF: 0.859

Gnomad4 EAS AF: 0.998

Gnomad4 SAS AF: 0.875

Gnomad4 FIN AF: 0.904

Gnomad4 NFE AF: 0.869

Gnomad4 OTH AF: 0.791

Alfa AF: 0.738 Hom.: 2616

Bravo AF: 0.738

Asia WGS AF: 0.901 AC: 3131 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	6.0
DANN	Benign	0.86

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs202292; hg19: chr8-82219639;