rs8085360

chr18-43778617-C-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 0.441 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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;