chr14-24132326-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_203402.3(FITM1):c.382C>A(p.Leu128Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,613,998 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_203402.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FITM1 | ENST00000267426.6 | c.382C>A | p.Leu128Met | missense_variant | Exon 2 of 2 | 1 | NM_203402.3 | ENSP00000267426.5 | ||
FITM1 | ENST00000559294 | c.-207C>A | 5_prime_UTR_premature_start_codon_gain_variant | Exon 1 of 1 | ENSP00000453741.1 | |||||
FITM1 | ENST00000559294 | c.-207C>A | 5_prime_UTR_variant | Exon 1 of 1 | ENSP00000453741.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461766Hom.: 0 Cov.: 32 AF XY: 0.00000825 AC XY: 6AN XY: 727186
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.382C>A (p.L128M) alteration is located in exon 2 (coding exon 2) of the FITM1 gene. This alteration results from a C to A substitution at nucleotide position 382, causing the leucine (L) at amino acid position 128 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at