rs5811155

Variant names:

• chr14-104797011-C-CT
• rs5811155

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 0.84 (55334 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0410

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.917 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: 0.844 AC: 128309 AN: 152016 Hom.: 55291 Cov.: 0

Gnomad AFR AF: 0.796

Gnomad AMI AF: 0.936

Gnomad AMR AF: 0.783

Gnomad ASJ AF: 0.886

Gnomad EAS AF: 0.335

Gnomad SAS AF: 0.659

Gnomad FIN AF: 0.927

Gnomad MID AF: 0.801

Gnomad NFE AF: 0.923

Gnomad OTH AF: 0.849

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

GnomAD4 genome AF: 0.844 AC: 128417 AN: 152134 Hom.: 55334 Cov.: 0 AF XY: 0.837 AC XY: 62288 AN XY: 74386

Gnomad4 AFR AF: 0.795

Gnomad4 AMR AF: 0.783

Gnomad4 ASJ AF: 0.886

Gnomad4 EAS AF: 0.336

Gnomad4 SAS AF: 0.661

Gnomad4 FIN AF: 0.927

Gnomad4 NFE AF: 0.923

Gnomad4 OTH AF: 0.846

Alfa AF: 0.882 Hom.: 7244

Asia WGS AF: 0.513 AC: 1789 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: rs5811155; hg19: chr14-105263348;