rs8085261

Variant names:

• chr18-30531220-A-C
• rs8085261

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;