rs8085261

Positions:

• chr18-30531220-A-C

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 0.676 in 152,088 control chromosomes in the GnomAD database, including 34,880 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 0.68 (34880 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.120

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.711 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: 0.676 AC: 102760 AN: 151970 Hom.: 34844 Cov.: 33

Gnomad AFR AF: 0.675

Gnomad AMI AF: 0.730

Gnomad AMR AF: 0.722

Gnomad ASJ AF: 0.595

Gnomad EAS AF: 0.634

Gnomad SAS AF: 0.679

Gnomad FIN AF: 0.705

Gnomad MID AF: 0.506

Gnomad NFE AF: 0.670

Gnomad OTH AF: 0.662

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

GnomAD4 genome AF: 0.676 AC: 102844 AN: 152088 Hom.: 34880 Cov.: 33 AF XY: 0.678 AC XY: 50383 AN XY: 74352

Gnomad4 AFR AF: 0.675

Gnomad4 AMR AF: 0.723

Gnomad4 ASJ AF: 0.595

Gnomad4 EAS AF: 0.634

Gnomad4 SAS AF: 0.679

Gnomad4 FIN AF: 0.705

Gnomad4 NFE AF: 0.670

Gnomad4 OTH AF: 0.659

Alfa AF: 0.676 Hom.: 5375

Bravo AF: 0.676

Asia WGS AF: 0.624 AC: 2171 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.5
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8085261; hg19: chr18-28111186;