11-102876060-GAA-GAAA

Position:

• chr11-102876060-GAA-GAAA

Variant summary

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

The variant allele was found at a frequency of 0.104 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: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0820

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	Protein	UniProt
		n.102876060_102876061insA		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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

Gnomad4 AFR AF: 0.211

Gnomad4 AMR AF: 0.0744

Gnomad4 ASJ AF: 0.126

Gnomad4 EAS AF: 0.109

Gnomad4 SAS AF: 0.0923

Gnomad4 FIN AF: 0.0407

Gnomad4 NFE AF: 0.0532

Gnomad4 OTH AF: 0.111

Bravo AF: 0.110

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: rs28360355; hg19: chr11-102746790;