chr8-26659448-T-TCCTGGGTCCTC

Variant names:

• chr8-26659448-T-TCCTGGGTCCTC
• rs11275306

Variant summary

Our verdict is Benign. The variant received -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. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. 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
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	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

African (AFR) AF: 0.371 AC: 15344 AN: 41392

American (AMR) AF: 0.150 AC: 2296 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.190 AC: 659 AN: 3468

East Asian (EAS) AF: 0.00483 AC: 25 AN: 5172

South Asian (SAS) AF: 0.257 AC: 1236 AN: 4808

European-Finnish (FIN) AF: 0.0630 AC: 666 AN: 10578

Middle Eastern (MID) AF: 0.247 AC: 72 AN: 292

European-Non Finnish (NFE) AF: 0.133 AC: 9015 AN: 67962

Other (OTH) AF: 0.212 AC: 447 AN: 2112

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

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs11275306; hg19: chr8-26516964;