17-82088180-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004104.5(FASN):c.2721C>G(p.Val907=) 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. V907V) has been classified as 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.2721C>G | p.Val907= | synonymous_variant | 17/43 | ENST00000306749.4 | |
FASN | XM_011523538.3 | c.2721C>G | p.Val907= | synonymous_variant | 17/43 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FASN | ENST00000306749.4 | c.2721C>G | p.Val907= | synonymous_variant | 17/43 | 1 | NM_004104.5 | P1 | |
FASN | ENST00000634990.1 | c.2721C>G | p.Val907= | synonymous_variant | 17/43 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248974Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135310
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at