GRCh37/hg19 position | 12:103234222 |
GRCh38/hg38 position | 12:102840444 |
Alleles (ref/alt) | A/T |
dbSNP rsid | - |
Gene symbol |
PAH |
Most severe consequence | stop_gained |
Flanking sequence | AGCCAAAATCTTAAGCTGCTGGGTATTGTCC[A/T]AGACCTCAATCCTTTGGGTGTATGGGTCGTA |
HGVS |
NM_000277.3:c.1271T>A NM_001354304.2:c.1271T>A NP_000268.1:p.Leu424Ter |
Transcript | Gene | Exon number | Consequence | HGVS cDNA | HGVS protein | Location | Protein location | ||||
NM_000277.3 | PAH | 13 | stop_gained | c.1271T>A | p.Leu424Ter | Exon 12 |
|
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NM_001354304.2 | PAH | 14 | stop_gained | c.1271T>A | p.Leu424Ter | Exon 13 |
|
Database | Population | AC | AN | Hom | AF |
Tool | Score | Prediction |
---|---|---|
LRT | 0.000000 | deleterious |
MutationTaster | 1 | disease_causing |
CADD | 8.499067 | - |
Method | Score | Level |
GERP++ | 5.33 | Conserved |
phastCons46way primates | 0.991 | Highly conserved |
phastCons46way placental | 0.991 | Highly conserved |
phastCons100way vertebrates | 1 | Highly conserved |
phyloP46way primates | 0.459 | Not conserved |
phyloP46way placental | 2.152 | Conserved |
phyloP100way vertebrates | 8.42 | Conserved |
Accession | Clinical significance | Date last evaluated | Review status | Method | Disease name | Disease symbol | Disease inheritance | Pubmed |
---|---|---|---|---|---|---|---|---|
RCV001269048 | Pathogenic | 2020-08-07 | reviewed by expert panel | curation | Phenylketonuria | PKU | Autosomal recessive inheritance |
InterVar is a software tool for clinical interpretation of genetic variants by the ACMG/AMP 2015 guideline. The eveidence tags that variant met are highlighted. Please note that evidence tags with need to be evaluated manually.
Benign | Pathogenic | |||||
---|---|---|---|---|---|---|
Strong | Supporting | Supporting | Moderate | Strong | Very Strong | |
Population data | BA1 BS1 BS2 |
PM2 | PS4 | |||
Computational and predictive data | BP1 BP3 BP4 BP7 |
PP3 | PM4 PM5 |
PS1 | PVS1 | |
Functional data | BS3 | PP2 | PM1 | PS3 | ||
Segregation data | BS4 | PP1 | PP1 | PP1 | ||
De novo data | PM6 | PS2 | ||||
Allelic data | BP2 | PM3 | ||||
Other database | BP6 | PP5 | ||||
Other data | BP5 | PP4 |
The physichemical property of amino acid change.
Trait | Leu (L) | Ter |
Amino acid name | Leucine | - |
Side chain class | aliphatic | - |
Polarity | nonpolar | - |
Charge (pH=7.4) | neutrally charged | - |
Hydropathy | hydrophobic | - |
Molecular weight | 131.175 | - |