rs2020918

Variant names:

• chr8-42214920-A-G
• rs2020918

Your query was ambiguous. Multiple possible variants found:

• chr8-42214920-A-G
• chr8-42214920-A-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 0.712 in 152,174 control chromosomes in the GnomAD database, including 38,879 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 0.71 (38879 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.31

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.779 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: 0.712 AC: 108312 AN: 152054 Hom.: 38833 Cov.: 33

Gnomad AFR AF: 0.786

Gnomad AMI AF: 0.639

Gnomad AMR AF: 0.740

Gnomad ASJ AF: 0.639

Gnomad EAS AF: 0.721

Gnomad SAS AF: 0.786

Gnomad FIN AF: 0.721

Gnomad MID AF: 0.633

Gnomad NFE AF: 0.660

Gnomad OTH AF: 0.702

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

GnomAD4 genome AF: 0.712 AC: 108419 AN: 152174 Hom.: 38879 Cov.: 33 AF XY: 0.717 AC XY: 53376 AN XY: 74396

Gnomad4 AFR AF: 0.786

Gnomad4 AMR AF: 0.740

Gnomad4 ASJ AF: 0.639

Gnomad4 EAS AF: 0.722

Gnomad4 SAS AF: 0.784

Gnomad4 FIN AF: 0.721

Gnomad4 NFE AF: 0.660

Gnomad4 OTH AF: 0.700

Alfa AF: 0.673 Hom.: 33176

Bravo AF: 0.715

Asia WGS AF: 0.756 AC: 2630 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.010
DANN	Benign	0.45

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2020918; hg19: chr8-42072438;