rs8085360

Variant names:

• chr18-43778617-C-T
• rs8085360

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 0.441 in 151,832 control chromosomes in the GnomAD database, including 15,325 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 0.44 (15325 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0190

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.68).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.496 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: 0.442 AC: 66984 AN: 151714 Hom.: 15319 Cov.: 31

Gnomad AFR AF: 0.389

Gnomad AMI AF: 0.382

Gnomad AMR AF: 0.367

Gnomad ASJ AF: 0.544

Gnomad EAS AF: 0.112

Gnomad SAS AF: 0.424

Gnomad FIN AF: 0.517

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.500

Gnomad OTH AF: 0.436

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

GnomAD4 genome AF: 0.441 AC: 67005 AN: 151832 Hom.: 15325 Cov.: 31 AF XY: 0.439 AC XY: 32537 AN XY: 74160

Gnomad4 AFR AF: 0.388

Gnomad4 AMR AF: 0.368

Gnomad4 ASJ AF: 0.544

Gnomad4 EAS AF: 0.111

Gnomad4 SAS AF: 0.424

Gnomad4 FIN AF: 0.517

Gnomad4 NFE AF: 0.500

Gnomad4 OTH AF: 0.432

Alfa AF: 0.487 Hom.: 3905

Bravo AF: 0.425

Asia WGS AF: 0.277 AC: 972 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.68
CADD	Benign	4.9
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8085360; hg19: chr18-41358582;