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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.246 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

Gnomad4 AFR AF: 0.126

Gnomad4 AMR AF: 0.212

Gnomad4 ASJ AF: 0.412

Gnomad4 EAS AF: 0.0157

Gnomad4 SAS AF: 0.260

Gnomad4 FIN AF: 0.394

Gnomad4 NFE AF: 0.307

Gnomad4 OTH AF: 0.275

Alfa AF: 0.271 Hom.: 747

Bravo AF: 0.223

Asia WGS AF: 0.131 AC: 461 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6073636; hg19: chr20-43713593;