chr19-48965347-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP5BP4
The NM_000146.4(FTL):c.-161C>G variant causes a 5 prime UTR change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_000146.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FTL | NM_000146.4 | c.-161C>G | 5_prime_UTR_variant | Exon 1 of 4 | ENST00000331825.11 | NP_000137.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 4
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Hereditary hyperferritinemia with congenital cataracts Pathogenic:1
This sequence change falls in the non-coding 5'UTR , Iron Responsive Element (IRE) loop of the FTL gene. Nucleotide alterations in the IRE loop abrogate IPR binding and subsequently deregulate FTL synthesis. This sequence change is located in the non-coding 5'UTR of the FTL gene, where a significant number of previously reported variants are found to associate with hyperferritinemia (PMID: 19800271, 7493028, 23421845, 10383191, 22881709, 9226182). This variant has been observed in individuals and families affected with hyperferritinemia and cataract syndrome (PMID: 15234655, 16406710). This variant is also known as Paris +39C>G in the literature. It was detected in a girl with hyperferritinaemia and signs of catarract. For these reasons, this variant has been classified as Pathogenic -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.