rs6073708

Variant names:

• chr20-45324237-A-G
• rs6073708

Your query was ambiguous. Multiple possible variants found:

• chr20-45324237-A-G
• chr20-45324237-A-T

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 0.475 in 151,830 control chromosomes in the GnomAD database, including 18,051 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 0.47 (18051 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0440
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.628 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: 0.474 AC: 71987 AN: 151714 Hom.: 18031 Cov.: 30

Gnomad AFR AF: 0.635

Gnomad AMI AF: 0.365

Gnomad AMR AF: 0.346

Gnomad ASJ AF: 0.306

Gnomad EAS AF: 0.493

Gnomad SAS AF: 0.238

Gnomad FIN AF: 0.448

Gnomad MID AF: 0.297

Gnomad NFE AF: 0.438

Gnomad OTH AF: 0.418

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

GnomAD4 genome AF: 0.475 AC: 72048 AN: 151830 Hom.: 18051 Cov.: 30 AF XY: 0.466 AC XY: 34528 AN XY: 74172

African (AFR) AF: 0.634 AC: 26254 AN: 41382

American (AMR) AF: 0.345 AC: 5264 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.306 AC: 1060 AN: 3466

East Asian (EAS) AF: 0.494 AC: 2547 AN: 5158

South Asian (SAS) AF: 0.236 AC: 1139 AN: 4818

European-Finnish (FIN) AF: 0.448 AC: 4724 AN: 10536

Middle Eastern (MID) AF: 0.316 AC: 93 AN: 294

European-Non Finnish (NFE) AF: 0.438 AC: 29755 AN: 67924

Other (OTH) AF: 0.418 AC: 881 AN: 2108

Alfa AF: 0.416 Hom.: 7341

Bravo AF: 0.481

Asia WGS AF: 0.385 AC: 1340 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	11
DANN	Benign	0.80
PhyloP100		-0.044

Splicing

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

Other links and lift over

dbSNP: rs6073708; hg19: chr20-43952877;