rs723511

Variant names:

• chr20-6857711-G-A
• rs723511

Your query was ambiguous. Multiple possible variants found:

• chr20-6857711-G-A
• chr20-6857711-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 0.591 in 151,964 control chromosomes in the GnomAD database, including 28,090 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 0.59 (28090 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.77
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.797 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: 0.591 AC: 89680 AN: 151846 Hom.: 28038 Cov.: 32

Gnomad AFR AF: 0.804

Gnomad AMI AF: 0.368

Gnomad AMR AF: 0.552

Gnomad ASJ AF: 0.548

Gnomad EAS AF: 0.743

Gnomad SAS AF: 0.530

Gnomad FIN AF: 0.451

Gnomad MID AF: 0.671

Gnomad NFE AF: 0.489

Gnomad OTH AF: 0.576

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

GnomAD4 genome AF: 0.591 AC: 89796 AN: 151964 Hom.: 28090 Cov.: 32 AF XY: 0.587 AC XY: 43628 AN XY: 74276

African (AFR) AF: 0.804 AC: 33354 AN: 41470

American (AMR) AF: 0.553 AC: 8442 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.548 AC: 1903 AN: 3472

East Asian (EAS) AF: 0.743 AC: 3830 AN: 5152

South Asian (SAS) AF: 0.530 AC: 2547 AN: 4804

European-Finnish (FIN) AF: 0.451 AC: 4757 AN: 10550

Middle Eastern (MID) AF: 0.663 AC: 195 AN: 294

European-Non Finnish (NFE) AF: 0.489 AC: 33206 AN: 67926

Other (OTH) AF: 0.580 AC: 1227 AN: 2114

Alfa AF: 0.522 Hom.: 11524

Bravo AF: 0.609

Asia WGS AF: 0.650 AC: 2263 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.0010
DANN	Benign	0.37
PhyloP100		-2.8

Splicing

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

Other links and lift over

dbSNP: rs723511; hg19: chr20-6838358;