11-102876060-GAA-GAAA

Variant names:

• chr11-102876060-G-GA
• rs28360355

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 0.104 in 152,010 control chromosomes in the GnomAD database, including 1,173 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.10 (1173 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0820
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.207 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: 0.104 AC: 15732 AN: 151892 Hom.: 1168 Cov.: 31

Gnomad AFR AF: 0.211

Gnomad AMI AF: 0.115

Gnomad AMR AF: 0.0746

Gnomad ASJ AF: 0.126

Gnomad EAS AF: 0.110

Gnomad SAS AF: 0.0934

Gnomad FIN AF: 0.0407

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.0532

Gnomad OTH AF: 0.107

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

GnomAD4 genome AF: 0.104 AC: 15738 AN: 152010 Hom.: 1173 Cov.: 31 AF XY: 0.102 AC XY: 7547 AN XY: 74288

African (AFR) AF: 0.211 AC: 8726 AN: 41446

American (AMR) AF: 0.0744 AC: 1137 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.126 AC: 438 AN: 3464

East Asian (EAS) AF: 0.109 AC: 565 AN: 5166

South Asian (SAS) AF: 0.0923 AC: 444 AN: 4812

European-Finnish (FIN) AF: 0.0407 AC: 430 AN: 10578

Middle Eastern (MID) AF: 0.156 AC: 46 AN: 294

European-Non Finnish (NFE) AF: 0.0532 AC: 3614 AN: 67956

Other (OTH) AF: 0.111 AC: 233 AN: 2106

Alfa AF: 0.0225 Hom.: 13

Bravo AF: 0.110

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.082

Splicing

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

Other links and lift over

dbSNP: rs28360355; hg19: chr11-102746790;