rs57045236

Positions:

• chr8-26659448-T-TCCTGGGTCCTC

Variant summary

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

The variant allele was found at a frequency of 0.196 in 151,966 control chromosomes in the GnomAD database, including 4,003 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.20 (4003 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.346

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.366 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.196 AC: 29808 AN: 151850 Hom.: 3992 Cov.: 28

Gnomad AFR AF: 0.370

Gnomad AMI AF: 0.102

Gnomad AMR AF: 0.151

Gnomad ASJ AF: 0.190

Gnomad EAS AF: 0.00463

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.0630

Gnomad MID AF: 0.248

Gnomad NFE AF: 0.133

Gnomad OTH AF: 0.213

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

GnomAD4 genome AF: 0.196 AC: 29853 AN: 151966 Hom.: 4003 Cov.: 28 AF XY: 0.193 AC XY: 14371 AN XY: 74280

Gnomad4 AFR AF: 0.371

Gnomad4 AMR AF: 0.150

Gnomad4 ASJ AF: 0.190

Gnomad4 EAS AF: 0.00483

Gnomad4 SAS AF: 0.257

Gnomad4 FIN AF: 0.0630

Gnomad4 NFE AF: 0.133

Gnomad4 OTH AF: 0.212

Alfa AF: 0.165 Hom.: 310

Asia WGS AF: 0.133 AC: 463 AN: 3478

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: rs11275306; hg19: chr8-26516964;