rs2020918

Variant names:

• chr8-42214920-A-G
• rs2020918
• ENST00000807724.1:n.157-532A>G

Your query was ambiguous. Multiple possible variants found:

• chr8-42214920-A-G
• chr8-42214920-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000807724.1(ENSG00000305013):​n.157-532A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. 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: ENSG00000305013 ENST00000807724.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.31
• Publications: 20 publications found

Genes affected

ENSG00000305013 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -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
ENSG00000305013	ENST00000807724.1	n.157-532A>G		intron_variant	Intron 1 of 1
ENSG00000305013	ENST00000807725.1	n.329-532A>G		intron_variant	Intron 3 of 3
ENSG00000305013	ENST00000807726.1	n.161-532A>G		intron_variant	Intron 2 of 2

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

African (AFR) AF: 0.786 AC: 32631 AN: 41518

American (AMR) AF: 0.740 AC: 11317 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.639 AC: 2218 AN: 3472

East Asian (EAS) AF: 0.722 AC: 3740 AN: 5180

South Asian (SAS) AF: 0.784 AC: 3777 AN: 4820

European-Finnish (FIN) AF: 0.721 AC: 7625 AN: 10580

Middle Eastern (MID) AF: 0.639 AC: 188 AN: 294

European-Non Finnish (NFE) AF: 0.660 AC: 44864 AN: 67994

Other (OTH) AF: 0.700 AC: 1476 AN: 2110

Alfa AF: 0.679 Hom.: 85581

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
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs2020918; hg19: chr8-42072438;