11-118680517-GA-G

Variant names:

• chr11-118680517-GA-G
• rs36077162

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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;