rs11576941
Variant names:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001441.3(FAAH):c.1175+197G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.301 in 598,906 control chromosomes in the GnomAD database, including 29,125 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.27 ( 6375 hom., cov: 31)
Exomes 𝑓: 0.31 ( 22750 hom. )
Consequence
FAAH
NM_001441.3 intron
NM_001441.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.552
Genes affected
FAAH (HGNC:3553): (fatty acid amide hydrolase) This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.473 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FAAH | ENST00000243167.9 | c.1175+197G>T | intron_variant | Intron 9 of 14 | 1 | NM_001441.3 | ENSP00000243167.8 | |||
FAAH | ENST00000484697.5 | n.*148+197G>T | intron_variant | Intron 3 of 7 | 1 | ENSP00000481641.1 | ||||
FAAH | ENST00000489366.2 | n.*107G>T | downstream_gene_variant | 3 | ||||||
FAAH | ENST00000493735.5 | n.*197G>T | downstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.274 AC: 41610AN: 151624Hom.: 6380 Cov.: 31
GnomAD3 genomes
AF:
AC:
41610
AN:
151624
Hom.:
Cov.:
31
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome AF: 0.310 AC: 138832AN: 447162Hom.: 22750 AF XY: 0.305 AC XY: 73689AN XY: 241310
GnomAD4 exome
AF:
AC:
138832
AN:
447162
Hom.:
AF XY:
AC XY:
73689
AN XY:
241310
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome AF: 0.274 AC: 41599AN: 151744Hom.: 6375 Cov.: 31 AF XY: 0.273 AC XY: 20270AN XY: 74124
GnomAD4 genome
AF:
AC:
41599
AN:
151744
Hom.:
Cov.:
31
AF XY:
AC XY:
20270
AN XY:
74124
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
1272
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at