rs723477

Variant names:

• chr20-308718-G-A
• rs723477

Your query was ambiguous. Multiple possible variants found:

• chr20-308718-G-A
• chr20-308718-G-C

Variant summary

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

The variant allele was found at a frequency of 0.778 in 152,226 control chromosomes in the GnomAD database, including 46,199 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 0.78 (46199 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.117
• Publications: 9 publications found

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 (SAS) allele frequency at 95% confidence interval = 0.839 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: 0.778 AC: 118282 AN: 152108 Hom.: 46163 Cov.: 34

Gnomad AFR AF: 0.820

Gnomad AMI AF: 0.785

Gnomad AMR AF: 0.789

Gnomad ASJ AF: 0.818

Gnomad EAS AF: 0.625

Gnomad SAS AF: 0.861

Gnomad FIN AF: 0.705

Gnomad MID AF: 0.835

Gnomad NFE AF: 0.764

Gnomad OTH AF: 0.786

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

GnomAD4 genome AF: 0.778 AC: 118373 AN: 152226 Hom.: 46199 Cov.: 34 AF XY: 0.777 AC XY: 57836 AN XY: 74422

African (AFR) AF: 0.820 AC: 34057 AN: 41550

American (AMR) AF: 0.789 AC: 12064 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.818 AC: 2841 AN: 3472

East Asian (EAS) AF: 0.625 AC: 3230 AN: 5170

South Asian (SAS) AF: 0.861 AC: 4154 AN: 4824

European-Finnish (FIN) AF: 0.705 AC: 7470 AN: 10594

Middle Eastern (MID) AF: 0.840 AC: 247 AN: 294

European-Non Finnish (NFE) AF: 0.764 AC: 51928 AN: 68002

Other (OTH) AF: 0.788 AC: 1666 AN: 2114

Alfa AF: 0.772 Hom.: 71657

Bravo AF: 0.779

Asia WGS AF: 0.755 AC: 2627 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	2.1
DANN	Benign	0.84
PhyloP100		-0.12

Splicing

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

Other links and lift over

dbSNP: rs723477; hg19: chr20-289362;