rs724084

Variant names:

• chr20-7295036-G-C
• rs724084

Your query was ambiguous. Multiple possible variants found:

• chr20-7295036-G-C
• chr20-7295036-G-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 0.431 in 151,892 control chromosomes in the GnomAD database, including 14,641 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 0.43 (14641 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0680
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.554 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: 0.431 AC: 65455 AN: 151772 Hom.: 14634 Cov.: 31

Gnomad AFR AF: 0.310

Gnomad AMI AF: 0.497

Gnomad AMR AF: 0.407

Gnomad ASJ AF: 0.426

Gnomad EAS AF: 0.562

Gnomad SAS AF: 0.572

Gnomad FIN AF: 0.533

Gnomad MID AF: 0.363

Gnomad NFE AF: 0.475

Gnomad OTH AF: 0.412

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

GnomAD4 genome AF: 0.431 AC: 65487 AN: 151892 Hom.: 14641 Cov.: 31 AF XY: 0.436 AC XY: 32348 AN XY: 74200

African (AFR) AF: 0.310 AC: 12844 AN: 41424

American (AMR) AF: 0.408 AC: 6219 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.426 AC: 1476 AN: 3468

East Asian (EAS) AF: 0.562 AC: 2881 AN: 5126

South Asian (SAS) AF: 0.571 AC: 2753 AN: 4818

European-Finnish (FIN) AF: 0.533 AC: 5624 AN: 10558

Middle Eastern (MID) AF: 0.371 AC: 109 AN: 294

European-Non Finnish (NFE) AF: 0.475 AC: 32254 AN: 67922

Other (OTH) AF: 0.414 AC: 874 AN: 2112

Alfa AF: 0.453 Hom.: 1988

Bravo AF: 0.417

Asia WGS AF: 0.518 AC: 1803 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	2.9
DANN	Benign	0.51
PhyloP100		-0.068

Splicing

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

Other links and lift over

dbSNP: rs724084; hg19: chr20-7275683;