rs8085261

Variant names:

• chr18-30531220-A-C
• rs8085261

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 0.676 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
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.675 AC: 27996 AN: 41488

American (AMR) AF: 0.723 AC: 11032 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.595 AC: 2063 AN: 3466

East Asian (EAS) AF: 0.634 AC: 3272 AN: 5160

South Asian (SAS) AF: 0.679 AC: 3274 AN: 4822

European-Finnish (FIN) AF: 0.705 AC: 7465 AN: 10586

Middle Eastern (MID) AF: 0.514 AC: 150 AN: 292

European-Non Finnish (NFE) AF: 0.670 AC: 45538 AN: 67988

Other (OTH) AF: 0.659 AC: 1390 AN: 2110

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
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs8085261; hg19: chr18-28111186;