rs6073636

Variant names:

• chr20-45084952-T-C
• rs6073636

Your query was ambiguous. Multiple possible variants found:

• chr20-45084952-T-C
• chr20-45084952-T-G

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 0.245 in 152,066 control chromosomes in the GnomAD database, including 5,430 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 0.25 (5430 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.547
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.74).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.304 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.246 AC: 37306 AN: 151948 Hom.: 5429 Cov.: 31

Gnomad AFR AF: 0.126

Gnomad AMI AF: 0.388

Gnomad AMR AF: 0.212

Gnomad ASJ AF: 0.412

Gnomad EAS AF: 0.0156

Gnomad SAS AF: 0.259

Gnomad FIN AF: 0.394

Gnomad MID AF: 0.418

Gnomad NFE AF: 0.307

Gnomad OTH AF: 0.278

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

GnomAD4 genome AF: 0.245 AC: 37308 AN: 152066 Hom.: 5430 Cov.: 31 AF XY: 0.249 AC XY: 18489 AN XY: 74318

African (AFR) AF: 0.126 AC: 5226 AN: 41512

American (AMR) AF: 0.212 AC: 3235 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.412 AC: 1429 AN: 3468

East Asian (EAS) AF: 0.0157 AC: 81 AN: 5166

South Asian (SAS) AF: 0.260 AC: 1254 AN: 4818

European-Finnish (FIN) AF: 0.394 AC: 4155 AN: 10558

Middle Eastern (MID) AF: 0.422 AC: 124 AN: 294

European-Non Finnish (NFE) AF: 0.307 AC: 20871 AN: 67964

Other (OTH) AF: 0.275 AC: 579 AN: 2108

Alfa AF: 0.266 Hom.: 758

Bravo AF: 0.223

Asia WGS AF: 0.131 AC: 461 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.74
CADD	Benign	10
DANN	Benign	0.91
PhyloP100		0.55

Splicing

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

Other links and lift over

dbSNP: rs6073636; hg19: chr20-43713593;