rs8094440

Variant names:

• chr18-62425703-A-G
• rs8094440

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 0.342 in 152,010 control chromosomes in the GnomAD database, including 9,270 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 0.34 (9270 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.40

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.437 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: 0.342 AC: 51893 AN: 151892 Hom.: 9250 Cov.: 31

Gnomad AFR AF: 0.442

Gnomad AMI AF: 0.156

Gnomad AMR AF: 0.355

Gnomad ASJ AF: 0.353

Gnomad EAS AF: 0.302

Gnomad SAS AF: 0.248

Gnomad FIN AF: 0.291

Gnomad MID AF: 0.263

Gnomad NFE AF: 0.298

Gnomad OTH AF: 0.344

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

GnomAD4 genome AF: 0.342 AC: 51962 AN: 152010 Hom.: 9270 Cov.: 31 AF XY: 0.340 AC XY: 25244 AN XY: 74278

Gnomad4 AFR AF: 0.442

Gnomad4 AMR AF: 0.355

Gnomad4 ASJ AF: 0.353

Gnomad4 EAS AF: 0.301

Gnomad4 SAS AF: 0.247

Gnomad4 FIN AF: 0.291

Gnomad4 NFE AF: 0.298

Gnomad4 OTH AF: 0.345

Alfa AF: 0.307 Hom.: 9897

Bravo AF: 0.350

Asia WGS AF: 0.312 AC: 1087 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	0.066
DANN	Benign	0.46

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8094440; hg19: chr18-60092936;