1-46394467-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001441.3(FAAH):c.119C>T(p.Ala40Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000651 in 1,382,120 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAAH | ENST00000243167.9 | c.119C>T | p.Ala40Val | missense_variant | Exon 1 of 15 | 1 | NM_001441.3 | ENSP00000243167.8 | ||
FAAH | ENST00000468718.5 | n.139C>T | non_coding_transcript_exon_variant | Exon 1 of 5 | 3 | |||||
FAAH | ENST00000493735.5 | n.97C>T | non_coding_transcript_exon_variant | Exon 1 of 8 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152026Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000650 AC: 8AN: 1230094Hom.: 0 Cov.: 30 AF XY: 0.00000332 AC XY: 2AN XY: 601866
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152026Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74252
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.119C>T (p.A40V) alteration is located in exon 1 (coding exon 1) of the FAAH gene. This alteration results from a C to T substitution at nucleotide position 119, causing the alanine (A) at amino acid position 40 to be replaced by a valine (V). 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