rs8089364

Variant names:

• chr18-60191596-T-C
• rs8089364

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 0.214 in 152,126 control chromosomes in the GnomAD database, including 3,833 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 0.21 (3833 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.235

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.331 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: 0.214 AC: 32511 AN: 152008 Hom.: 3831 Cov.: 31

Gnomad AFR AF: 0.138

Gnomad AMI AF: 0.337

Gnomad AMR AF: 0.175

Gnomad ASJ AF: 0.217

Gnomad EAS AF: 0.180

Gnomad SAS AF: 0.344

Gnomad FIN AF: 0.183

Gnomad MID AF: 0.269

Gnomad NFE AF: 0.265

Gnomad OTH AF: 0.219

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

GnomAD4 genome AF: 0.214 AC: 32521 AN: 152126 Hom.: 3833 Cov.: 31 AF XY: 0.210 AC XY: 15624 AN XY: 74372

Gnomad4 AFR AF: 0.138

Gnomad4 AMR AF: 0.175

Gnomad4 ASJ AF: 0.217

Gnomad4 EAS AF: 0.180

Gnomad4 SAS AF: 0.345

Gnomad4 FIN AF: 0.183

Gnomad4 NFE AF: 0.265

Gnomad4 OTH AF: 0.220

Alfa AF: 0.211 Hom.: 711

Bravo AF: 0.209

Asia WGS AF: 0.209 AC: 726 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.25
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8089364; hg19: chr18-57858829;