rs2228305
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_004104.5(FASN):c.4447G>A(p.Val1483Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.035 in 1,551,942 control chromosomes in the GnomAD database, including 1,238 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1483L) has been classified as Uncertain significance.
Frequency
Consequence
NM_004104.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FASN | NM_004104.5 | c.4447G>A | p.Val1483Ile | missense_variant | 26/43 | ENST00000306749.4 | |
FASN | XM_011523538.3 | c.4447G>A | p.Val1483Ile | missense_variant | 26/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FASN | ENST00000306749.4 | c.4447G>A | p.Val1483Ile | missense_variant | 26/43 | 1 | NM_004104.5 | P1 | |
FASN | ENST00000634990.1 | c.4441G>A | p.Val1481Ile | missense_variant | 26/43 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0450 AC: 6835AN: 151772Hom.: 190 Cov.: 34
GnomAD3 exomes AF: 0.0415 AC: 6577AN: 158660Hom.: 188 AF XY: 0.0429 AC XY: 3605AN XY: 84108
GnomAD4 exome AF: 0.0339 AC: 47524AN: 1400048Hom.: 1047 Cov.: 50 AF XY: 0.0349 AC XY: 24092AN XY: 690816
GnomAD4 genome ? AF: 0.0450 AC: 6841AN: 151894Hom.: 191 Cov.: 34 AF XY: 0.0439 AC XY: 3263AN XY: 74266
ClinVar
Submissions by phenotype
Epileptic encephalopathy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at