rs11318739

Positions:

• chr2-218159710-CA-C

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;