rs5811155

Positions:

• chr14-104797011-C-CT

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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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;