rs6018428

Variant names:

• chr20-37423192-G-A
• rs6018428

Your query was ambiguous. Multiple possible variants found:

• chr20-37423192-G-A
• chr20-37423192-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 0.291 in 152,030 control chromosomes in the GnomAD database, including 8,964 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 0.29 (8964 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.409
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.572 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: 0.291 AC: 44176 AN: 151912 Hom.: 8941 Cov.: 32

Gnomad AFR AF: 0.578

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.241

Gnomad ASJ AF: 0.175

Gnomad EAS AF: 0.286

Gnomad SAS AF: 0.171

Gnomad FIN AF: 0.0994

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.173

Gnomad OTH AF: 0.269

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

GnomAD4 genome AF: 0.291 AC: 44259 AN: 152030 Hom.: 8964 Cov.: 32 AF XY: 0.284 AC XY: 21117 AN XY: 74298

African (AFR) AF: 0.578 AC: 23932 AN: 41404

American (AMR) AF: 0.242 AC: 3693 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.175 AC: 609 AN: 3472

East Asian (EAS) AF: 0.285 AC: 1470 AN: 5156

South Asian (SAS) AF: 0.172 AC: 825 AN: 4808

European-Finnish (FIN) AF: 0.0994 AC: 1054 AN: 10608

Middle Eastern (MID) AF: 0.259 AC: 76 AN: 294

European-Non Finnish (NFE) AF: 0.173 AC: 11781 AN: 67976

Other (OTH) AF: 0.266 AC: 562 AN: 2114

Alfa AF: 0.211 Hom.: 3630

Bravo AF: 0.315

Asia WGS AF: 0.238 AC: 828 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.6
DANN	Benign	0.45
PhyloP100		0.41

Splicing

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

Other links and lift over

dbSNP: rs6018428; hg19: chr20-36051595;