rs8097738

Variant names:

• chr18-43786188-A-G
• rs8097738

Your query was ambiguous. Multiple possible variants found:

• chr18-43786188-A-G
• chr18-43786188-A-T

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 0.455 in 152,004 control chromosomes in the GnomAD database, including 16,238 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 0.46 (16238 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.377

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.5 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: 0.455 AC: 69157 AN: 151884 Hom.: 16227 Cov.: 32

Gnomad AFR AF: 0.426

Gnomad AMI AF: 0.386

Gnomad AMR AF: 0.377

Gnomad ASJ AF: 0.551

Gnomad EAS AF: 0.112

Gnomad SAS AF: 0.425

Gnomad FIN AF: 0.524

Gnomad MID AF: 0.519

Gnomad NFE AF: 0.505

Gnomad OTH AF: 0.445

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

GnomAD4 genome AF: 0.455 AC: 69193 AN: 152004 Hom.: 16238 Cov.: 32 AF XY: 0.452 AC XY: 33541 AN XY: 74276

Gnomad4 AFR AF: 0.426

Gnomad4 AMR AF: 0.378

Gnomad4 ASJ AF: 0.551

Gnomad4 EAS AF: 0.112

Gnomad4 SAS AF: 0.424

Gnomad4 FIN AF: 0.524

Gnomad4 NFE AF: 0.505

Gnomad4 OTH AF: 0.441

Alfa AF: 0.385 Hom.: 1618

Bravo AF: 0.441

Asia WGS AF: 0.280 AC: 979 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	1.6
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8097738; hg19: chr18-41366153;