rs778737573
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004104.5(FASN):c.4224G>C(p.Pro1408=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P1408P) has been classified as Likely benign.
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.4224G>C | p.Pro1408= | synonymous_variant | 24/43 | ENST00000306749.4 | |
FASN | XM_011523538.3 | c.4224G>C | p.Pro1408= | synonymous_variant | 24/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FASN | ENST00000306749.4 | c.4224G>C | p.Pro1408= | synonymous_variant | 24/43 | 1 | NM_004104.5 | P1 | |
FASN | ENST00000634990.1 | c.4218G>C | p.Pro1406= | synonymous_variant | 24/43 | 5 | |||
FASN | ENST00000579410.1 | n.281G>C | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 70
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at