The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • No ClinVar Id was directly found from the curated document

  • See Evidence submitted by expert panel for details.

Variant: NM_001354304.2:c.510-735_912+434del

CA916084430

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 9c21c34e-abd4-41c0-bf30-c1cedc8e886e
Approved on: 2020-06-05
Published on: 2021-03-21

HGVS expressions

NM_001354304.2:c.510-735_912+434del
NC_000012.12:g.102851253_102856067del
CM000674.2:g.102851253_102856067del
NC_000012.11:g.103245031_103249845del
CM000674.1:g.103245031_103249845del
NC_000012.10:g.101769161_101773975del
NG_008690.2:g.107344_112158del
ENST00000553106.6:c.510-735_912+434del
ENST00000307000.7:c.495-735_897+434del
ENST00000553106.5:c.510-735_912+434del
NM_000277.2:c.510-735_912+434del
NM_001354304.1:c.510-735_912+434del
NM_000277.3:c.510-735_912+434del
More

Pathogenic

Met criteria codes 4
PVS1 PM2 PP4_Moderate PM3_Supporting

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
The p.Ex6_7_8del (c.510-735_912+434del) variant is a 4799bp deletion in PAH, a gene where loss of function is a known disease mechanism, and is predicted to lead to a frameshift at Gly171, premature protein truncation, and NMD (PVS1). It is absent from ethnically diverse control databases, including gnomAD (structural variant version, gnomAD SVs v2.1) (PM2). It has been previously reported in one patient with PKU (BH4 deficiency excluded by sequencing of the genes in the BH4 cofactor metabolism pathway) (PP4_Moderate) (PMID: 23942198) in presumed trans with the p.F55L variant (Pathogenic per PAH VCEP) (0.5 points; PM3_Supporting). Classification: Pathogenic Supporting Criteria: PVS1; PM2; PP4_Moderate; PM3_Supporting
Met criteria codes
PVS1
The p.Ex6_7_8del (c.510-735_912+434del) variant is a 4799bp deletion in PAH, a gene where loss of function is a known disease mechanism, and is predicted to lead to a frameshift at Gly171, premature protein truncation, and NMD (PVS1).
PM2
It is absent from ethnically diverse control databases, including gnomAD (structural variant version, gnomAD SVs v2.1) (PM2).
PP4_Moderate
It has been previously reported in one patient with PKU (BH4 deficiency excluded by sequencing of the genes in the BH4 cofactor metabolism pathway) (PP4_Moderate) (PMID: 23942198) in presumed trans with the p.F55L variant (Pathogenic per PAH VCEP) (0.5 points; PM3_Supporting).
PM3_Supporting
It has been previously reported in one patient with PKU (BH4 deficiency excluded by sequencing of the genes in the BH4 cofactor metabolism pathway) (PP4_Moderate) (PMID: 23942198) in presumed trans with the p.F55L variant (Pathogenic per PAH VCEP) (0.5 points; PM3_Supporting).
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.