rs767131485
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001441.3(FAAH):āc.491C>Gā(p.Ala164Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,778 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A164V) has been classified 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAAH | ENST00000243167.9 | c.491C>G | p.Ala164Gly | missense_variant | Exon 4 of 15 | 1 | NM_001441.3 | ENSP00000243167.8 | ||
FAAH | ENST00000468718.5 | n.511C>G | non_coding_transcript_exon_variant | Exon 4 of 5 | 3 | |||||
FAAH | ENST00000493735.5 | n.469C>G | non_coding_transcript_exon_variant | Exon 4 of 8 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459778Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 726216
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.