19-48965338-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000146.4(FTL):c.-170T>C variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000389 in 514,278 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000146.4 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FTL | NM_000146.4 | c.-170T>C | 5_prime_UTR_premature_start_codon_gain_variant | 1/4 | ENST00000331825.11 | NP_000137.2 | ||
FTL | NM_000146.4 | c.-170T>C | 5_prime_UTR_variant | 1/4 | ENST00000331825.11 | NP_000137.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FTL | ENST00000331825.11 | c.-170T>C | 5_prime_UTR_premature_start_codon_gain_variant | 1/4 | 1 | NM_000146.4 | ENSP00000366525.2 | |||
FTL | ENST00000331825.11 | c.-170T>C | 5_prime_UTR_variant | 1/4 | 1 | NM_000146.4 | ENSP00000366525.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000389 AC: 2AN: 514278Hom.: 0 Cov.: 4 AF XY: 0.00 AC XY: 0AN XY: 277238
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Hereditary hyperferritinemia with congenital cataracts;C1853578:Neuroferritinopathy Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Nov 16, 2023 | This variant occurs in a non-coding region of the FTL gene. It does not change the encoded amino acid sequence of the FTL protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FTL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1416345). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.