rs11318739

Variant names:

• chr2-218159710-CA-C
• rs11318739

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 0.89 (61236 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.46

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.938 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: 0.895 AC: 136016 AN: 151990 Hom.: 61200 Cov.: 0

Gnomad AFR AF: 0.797

Gnomad AMI AF: 0.986

Gnomad AMR AF: 0.876

Gnomad ASJ AF: 0.969

Gnomad EAS AF: 0.922

Gnomad SAS AF: 0.889

Gnomad FIN AF: 0.943

Gnomad MID AF: 0.952

Gnomad NFE AF: 0.944

Gnomad OTH AF: 0.910

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

GnomAD4 genome AF: 0.895 AC: 136107 AN: 152110 Hom.: 61236 Cov.: 0 AF XY: 0.893 AC XY: 66428 AN XY: 74348

Gnomad4 AFR AF: 0.797

Gnomad4 AMR AF: 0.876

Gnomad4 ASJ AF: 0.969

Gnomad4 EAS AF: 0.922

Gnomad4 SAS AF: 0.890

Gnomad4 FIN AF: 0.943

Gnomad4 NFE AF: 0.944

Gnomad4 OTH AF: 0.912

Alfa AF: 0.912 Hom.: 7730

Bravo AF: 0.887

Asia WGS AF: 0.906 AC: 3151 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: rs11318739; hg19: chr2-219024433;