rs60717610

chr20-45173013-C-CATATAchr20-45173013-C-CATATG

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;