rs6085728

Variant names:

• chr20-6921503-G-A
• rs6085728

Your query was ambiguous. Multiple possible variants found:

• chr20-6921503-G-A
• chr20-6921503-G-C
• chr20-6921503-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 0.755 in 152,114 control chromosomes in the GnomAD database, including 43,457 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 0.75 (43457 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.263
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.775 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: 0.755 AC: 114735 AN: 151996 Hom.: 43426 Cov.: 33

Gnomad AFR AF: 0.775

Gnomad AMI AF: 0.877

Gnomad AMR AF: 0.787

Gnomad ASJ AF: 0.747

Gnomad EAS AF: 0.578

Gnomad SAS AF: 0.704

Gnomad FIN AF: 0.785

Gnomad MID AF: 0.750

Gnomad NFE AF: 0.747

Gnomad OTH AF: 0.749

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

GnomAD4 genome AF: 0.755 AC: 114825 AN: 152114 Hom.: 43457 Cov.: 33 AF XY: 0.756 AC XY: 56204 AN XY: 74366

African (AFR) AF: 0.775 AC: 32126 AN: 41468

American (AMR) AF: 0.787 AC: 12028 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.747 AC: 2592 AN: 3472

East Asian (EAS) AF: 0.578 AC: 2979 AN: 5156

South Asian (SAS) AF: 0.702 AC: 3387 AN: 4826

European-Finnish (FIN) AF: 0.785 AC: 8301 AN: 10580

Middle Eastern (MID) AF: 0.745 AC: 219 AN: 294

European-Non Finnish (NFE) AF: 0.747 AC: 50812 AN: 68006

Other (OTH) AF: 0.747 AC: 1581 AN: 2116

Alfa AF: 0.749 Hom.: 163498

Bravo AF: 0.755

Asia WGS AF: 0.658 AC: 2287 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.0
DANN	Benign	0.59
PhyloP100		0.26

Splicing

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

Other links and lift over

dbSNP: rs6085728; hg19: chr20-6902150;