rs8089364

Variant names:

• chr18-60191596-T-C
• rs8089364

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 32 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.138 AC: 5713 AN: 41502

American (AMR) AF: 0.175 AC: 2671 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.217 AC: 752 AN: 3466

East Asian (EAS) AF: 0.180 AC: 931 AN: 5172

South Asian (SAS) AF: 0.345 AC: 1664 AN: 4820

European-Finnish (FIN) AF: 0.183 AC: 1938 AN: 10584

Middle Eastern (MID) AF: 0.265 AC: 78 AN: 294

European-Non Finnish (NFE) AF: 0.265 AC: 18004 AN: 67978

Other (OTH) AF: 0.220 AC: 464 AN: 2112

Alfa AF: 0.239 Hom.: 6902

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
PhyloP100		-0.23

Splicing

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

Other links and lift over

dbSNP: rs8089364; hg19: chr18-57858829;