1-46406328-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001441.3(FAAH):c.911G>T(p.Arg304Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,613,728 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001441.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAAH | NM_001441.3 | c.911G>T | p.Arg304Leu | missense_variant | 7/15 | ENST00000243167.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAAH | ENST00000243167.9 | c.911G>T | p.Arg304Leu | missense_variant | 7/15 | 1 | NM_001441.3 | P1 | |
FAAH | ENST00000484697.5 | c.72+534G>T | intron_variant, NMD_transcript_variant | 1 | |||||
FAAH | ENST00000489366.2 | n.126G>T | non_coding_transcript_exon_variant | 2/4 | 3 | ||||
FAAH | ENST00000493735.5 | n.1132G>T | non_coding_transcript_exon_variant | 6/8 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251350Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135894
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461526Hom.: 0 Cov.: 35 AF XY: 0.0000220 AC XY: 16AN XY: 727068
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2021 | The c.911G>T (p.R304L) alteration is located in exon 7 (coding exon 7) of the FAAH gene. This alteration results from a G to T substitution at nucleotide position 911, causing the arginine (R) at amino acid position 304 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at