chr11-118680517-GA-G

Position:

• chr11-118680517-GA-G

Variant summary

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

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.35 (9409 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.463 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: 0.346 AC: 52550 AN: 151708 Hom.: 9387 Cov.: 0

Gnomad AFR AF: 0.341

Gnomad AMI AF: 0.482

Gnomad AMR AF: 0.471

Gnomad ASJ AF: 0.366

Gnomad EAS AF: 0.442

Gnomad SAS AF: 0.198

Gnomad FIN AF: 0.311

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.327

Gnomad OTH AF: 0.353

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

GnomAD4 genome AF: 0.347 AC: 52616 AN: 151826 Hom.: 9409 Cov.: 0 AF XY: 0.345 AC XY: 25593 AN XY: 74182

Gnomad4 AFR AF: 0.341

Gnomad4 AMR AF: 0.472

Gnomad4 ASJ AF: 0.366

Gnomad4 EAS AF: 0.443

Gnomad4 SAS AF: 0.196

Gnomad4 FIN AF: 0.311

Gnomad4 NFE AF: 0.327

Gnomad4 OTH AF: 0.352

Alfa AF: 0.346 Hom.: 1117

Bravo AF: 0.366

Asia WGS AF: 0.304 AC: 1061 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: rs36077162; hg19: chr11-118551226;