rs140221463
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004104.5(FASN):āc.5412T>Cā(p.Ser1804=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,612,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_004104.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FASN | NM_004104.5 | c.5412T>C | p.Ser1804= | synonymous_variant | 32/43 | ENST00000306749.4 | |
FASN | XM_011523538.3 | c.5412T>C | p.Ser1804= | synonymous_variant | 32/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FASN | ENST00000306749.4 | c.5412T>C | p.Ser1804= | synonymous_variant | 32/43 | 1 | NM_004104.5 | P1 | |
FASN | ENST00000634990.1 | c.5406T>C | p.Ser1802= | synonymous_variant | 32/43 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152180Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249972Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135650
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460542Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 726556
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152296Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74470
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at