rs3138582
Positions:
- chr13-28300515-ATACACCCACACACACACACACACACACACACACACACACACAT-ACACACACACACACACACACACACACACACACACACACAC
- chr13-28300515-ATACACCCACACACACACACACACACACACACACACACACACAT-ACACACACACACACACACACACACACACACACACACACACAC
- chr13-28300515-ATACACCCACACACACACACACACACACACACACACACACACAT-ACACACACACACACACACACACACACACACACACACACACACACAC
- chr13-28300515-ATACACCCACACACACACACACACACACACACACACACACACAT-ACACACACACACACACACACACACACACACACACACACACACACACAC
- chr13-28300515-ATACACCCACACACACACACACACACACACACACACACACACAT-ACACACACACACACACACACACACACACACACACACACACACACACACACAC
- chr13-28300515-ATACACCCACACACACACACACACACACACACACACACACACAT-ACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- chr13-28300515-ATACACCCACACACACACACACACACACACACACACACACACAT-ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- chr13-28300515-ATACACCCACACACACACACACACACACACACACACACACACAT-ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
- chr13-28300515-ATACACCCACACACACACACACACACACACACACACACACACAT-ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_002019.4(FLT1):c.*2609_*2651delATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTGTAinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 0)
Consequence
FLT1
NM_002019.4 3_prime_UTR
NM_002019.4 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.726
Genes affected
FLT1 (HGNC:3763): (fms related receptor tyrosine kinase 1) This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLT1 | NM_002019.4 | c.*2609_*2651delATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTGTAinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG | 3_prime_UTR_variant | 30/30 | ENST00000282397.9 | NP_002010.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FLT1 | ENST00000282397 | c.*2609_*2651delATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTGTAinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG | 3_prime_UTR_variant | 30/30 | 1 | NM_002019.4 | ENSP00000282397.4 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome Cov.: 0
GnomAD4 genome
Cov.:
0
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at