NM_004104.5:c.128_130delGGCinsATT
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004104.5(FASN):c.128_130delGGCinsATT(p.GlyLeu43AspPhe) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. G43G) has been classified as Likely benign.
Frequency
Consequence
NM_004104.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FASN | NM_004104.5 | c.128_130delGGCinsATT | p.GlyLeu43AspPhe | missense_variant, splice_region_variant | ENST00000306749.4 | NP_004095.4 | ||
FASN | XM_011523538.3 | c.128_130delGGCinsATT | p.GlyLeu43AspPhe | missense_variant, splice_region_variant | XP_011521840.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FASN | ENST00000306749.4 | c.128_130delGGCinsATT | p.GlyLeu43AspPhe | missense_variant, splice_region_variant | 1 | NM_004104.5 | ENSP00000304592.2 | |||
FASN | ENST00000634990.1 | c.128_130delGGCinsATT | p.GlyLeu43AspPhe | missense_variant, splice_region_variant | 5 | ENSP00000488964.1 | ||||
FASN | ENST00000635197.1 | c.128_130delGGCinsATT | p.GlyLeu43AspPhe | missense_variant, splice_region_variant | 3 | ENSP00000489514.1 | ||||
FASN | ENST00000637525.1 | n.-96_-94delGGCinsATT | upstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
Epileptic encephalopathy Uncertain:1
This variant, c.128_130delinsATT, is a complex sequence change that results in the deletion of 1 amino acid and insertion of 2 amino acid(s) in the FASN protein (p.Gly43_Leu44delinsAspPhe). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with FASN-related conditions. ClinVar contains an entry for this variant (Variation ID: 531064). 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