rs730270

Variant names:

• chr20-7793055-T-G
• rs730270

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 0.114 in 152,200 control chromosomes in the GnomAD database, including 1,166 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 0.11 (1166 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.135

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 (SAS) allele frequency at 95% confidence interval = 0.314 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: 0.114 AC: 17273 AN: 152082 Hom.: 1159 Cov.: 32

Gnomad AFR AF: 0.119

Gnomad AMI AF: 0.0341

Gnomad AMR AF: 0.155

Gnomad ASJ AF: 0.178

Gnomad EAS AF: 0.157

Gnomad SAS AF: 0.328

Gnomad FIN AF: 0.0483

Gnomad MID AF: 0.142

Gnomad NFE AF: 0.0896

Gnomad OTH AF: 0.140

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

GnomAD4 genome AF: 0.114 AC: 17300 AN: 152200 Hom.: 1166 Cov.: 32 AF XY: 0.115 AC XY: 8574 AN XY: 74422

Gnomad4 AFR AF: 0.119

Gnomad4 AMR AF: 0.155

Gnomad4 ASJ AF: 0.178

Gnomad4 EAS AF: 0.157

Gnomad4 SAS AF: 0.328

Gnomad4 FIN AF: 0.0483

Gnomad4 NFE AF: 0.0896

Gnomad4 OTH AF: 0.145

Alfa AF: 0.0967 Hom.: 194

Bravo AF: 0.120

Asia WGS AF: 0.265 AC: 921 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	1.0
DANN	Benign	0.65

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs730270; hg19: chr20-7773702;