chr20-45173013-C-CATATA

Variant names:

• chr20-45173013-C-CATATA
• rs60717610

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The variant allele was found at a frequency of 0.275 in 151,786 control chromosomes in the GnomAD database, including 6,889 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.27 (6889 hom., cov: 21)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.49

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.471 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: 0.274 AC: 41601 AN: 151672 Hom.: 6863 Cov.: 21

Gnomad AFR AF: 0.476

Gnomad AMI AF: 0.312

Gnomad AMR AF: 0.229

Gnomad ASJ AF: 0.232

Gnomad EAS AF: 0.103

Gnomad SAS AF: 0.163

Gnomad FIN AF: 0.232

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.192

Gnomad OTH AF: 0.272

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

GnomAD4 genome AF: 0.275 AC: 41687 AN: 151786 Hom.: 6889 Cov.: 21 AF XY: 0.275 AC XY: 20392 AN XY: 74190

Gnomad4 AFR AF: 0.476

Gnomad4 AMR AF: 0.229

Gnomad4 ASJ AF: 0.232

Gnomad4 EAS AF: 0.103

Gnomad4 SAS AF: 0.164

Gnomad4 FIN AF: 0.232

Gnomad4 NFE AF: 0.192

Gnomad4 OTH AF: 0.274

Alfa AF: 0.107 Hom.: 125

Asia WGS AF: 0.142 AC: 495 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs60717610; hg19: chr20-43801654;