rs144212251
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The ENST00000306749.4(FASN):c.5470C>T(p.Arg1824Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000911 in 1,612,696 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
ENST00000306749.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FASN | NM_004104.5 | c.5470C>T | p.Arg1824Trp | missense_variant | 32/43 | ENST00000306749.4 | NP_004095.4 | |
FASN | XM_011523538.3 | c.5470C>T | p.Arg1824Trp | missense_variant | 32/43 | XP_011521840.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FASN | ENST00000306749.4 | c.5470C>T | p.Arg1824Trp | missense_variant | 32/43 | 1 | NM_004104.5 | ENSP00000304592 | P1 | |
FASN | ENST00000634990.1 | c.5464C>T | p.Arg1822Trp | missense_variant | 32/43 | 5 | ENSP00000488964 |
Frequencies
GnomAD3 genomes AF: 0.00101 AC: 153AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00109 AC: 273AN: 249730Hom.: 1 AF XY: 0.00117 AC XY: 159AN XY: 135566
GnomAD4 exome AF: 0.000901 AC: 1316AN: 1460376Hom.: 5 Cov.: 36 AF XY: 0.000944 AC XY: 686AN XY: 726492
GnomAD4 genome AF: 0.00100 AC: 153AN: 152320Hom.: 0 Cov.: 33 AF XY: 0.000980 AC XY: 73AN XY: 74480
ClinVar
Submissions by phenotype
Epileptic encephalopathy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at