rs60184934
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_000137.4(FAH):c.81+38dup variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.22 ( 2236 hom., cov: 20)
Exomes 𝑓: 0.13 ( 15195 hom. )
Consequence
FAH
NM_000137.4 intron
NM_000137.4 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.921
Genes affected
FAH (HGNC:3579): (fumarylacetoacetate hydrolase) Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Predicted to act upstream of or within arginine catabolic process. Located in extracellular exosome. Implicated in tyrosinemia type I. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -16 ACMG points.
BP6
?
Variant 15-80153170-A-AG is Benign according to our data. Variant chr15-80153170-A-AG is described in ClinVar as [Benign]. Clinvar id is 255283.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.364 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FAH | NM_000137.4 | c.81+38dup | intron_variant | ENST00000561421.6 | |||
FAH | NM_001374377.1 | c.81+38dup | intron_variant | ||||
FAH | NM_001374380.1 | c.81+38dup | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FAH | ENST00000561421.6 | c.81+38dup | intron_variant | 1 | NM_000137.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.216 AC: 24126AN: 111846Hom.: 2236 Cov.: 20
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GnomAD3 exomes AF: 0.162 AC: 37803AN: 234040Hom.: 3381 AF XY: 0.166 AC XY: 21265AN XY: 128198
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GnomAD4 exome AF: 0.134 AC: 172869AN: 1290704Hom.: 15195 Cov.: 20 AF XY: 0.139 AC XY: 89971AN XY: 649306
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GnomAD4 genome ? AF: 0.216 AC: 24154AN: 111914Hom.: 2236 Cov.: 20 AF XY: 0.221 AC XY: 12011AN XY: 54288
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 11, 2019 | - - |
Computational scores
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at