rs2020918

chr8-42214920-A-Gchr8-42214920-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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;