rs913068

Variant names:

• chr20-57109027-A-G
• rs913068

Your query was ambiguous. Multiple possible variants found:

• chr20-57109027-A-G
• chr20-57109027-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 0.238 in 152,190 control chromosomes in the GnomAD database, including 4,660 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 0.24 (4660 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0220

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.379 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: 0.238 AC: 36177 AN: 152072 Hom.: 4664 Cov.: 33

Gnomad AFR AF: 0.162

Gnomad AMI AF: 0.321

Gnomad AMR AF: 0.254

Gnomad ASJ AF: 0.246

Gnomad EAS AF: 0.393

Gnomad SAS AF: 0.187

Gnomad FIN AF: 0.214

Gnomad MID AF: 0.269

Gnomad NFE AF: 0.274

Gnomad OTH AF: 0.258

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

GnomAD4 genome AF: 0.238 AC: 36174 AN: 152190 Hom.: 4660 Cov.: 33 AF XY: 0.233 AC XY: 17368 AN XY: 74408

Gnomad4 AFR AF: 0.162

Gnomad4 AMR AF: 0.254

Gnomad4 ASJ AF: 0.246

Gnomad4 EAS AF: 0.393

Gnomad4 SAS AF: 0.186

Gnomad4 FIN AF: 0.214

Gnomad4 NFE AF: 0.274

Gnomad4 OTH AF: 0.255

Alfa AF: 0.266 Hom.: 7514

Bravo AF: 0.238

Asia WGS AF: 0.252 AC: 877 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	1.9
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs913068; hg19: chr20-55684083;