rs8020281

Variant names:

• chr14-94900089-G-A
• rs8020281

Your query was ambiguous. Multiple possible variants found:

• chr14-94900089-G-A
• chr14-94900089-G-C
• chr14-94900089-G-T

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 0.284 in 151,226 control chromosomes in the GnomAD database, including 6,128 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 0.28 (6128 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.71
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.06).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.32 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: 0.284 AC: 42896 AN: 151112 Hom.: 6128 Cov.: 32

Gnomad AFR AF: 0.325

Gnomad AMI AF: 0.188

Gnomad AMR AF: 0.266

Gnomad ASJ AF: 0.169

Gnomad EAS AF: 0.293

Gnomad SAS AF: 0.284

Gnomad FIN AF: 0.295

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.269

Gnomad OTH AF: 0.261

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

GnomAD4 genome AF: 0.284 AC: 42930 AN: 151226 Hom.: 6128 Cov.: 32 AF XY: 0.285 AC XY: 21000 AN XY: 73782

African (AFR) AF: 0.324 AC: 13360 AN: 41196

American (AMR) AF: 0.266 AC: 4047 AN: 15196

Ashkenazi Jewish (ASJ) AF: 0.169 AC: 585 AN: 3468

East Asian (EAS) AF: 0.293 AC: 1512 AN: 5152

South Asian (SAS) AF: 0.285 AC: 1368 AN: 4798

European-Finnish (FIN) AF: 0.295 AC: 3026 AN: 10246

Middle Eastern (MID) AF: 0.184 AC: 54 AN: 294

European-Non Finnish (NFE) AF: 0.269 AC: 18256 AN: 67870

Other (OTH) AF: 0.263 AC: 551 AN: 2096

Alfa AF: 0.251 Hom.: 3013

Bravo AF: 0.281

Asia WGS AF: 0.334 AC: 1158 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.0030
DANN	Benign	0.43
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs8020281; hg19: chr14-95366426;