Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000277.2(PAH):c.1089delG (p.Lys363Asnfs)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229336

102518 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: f73ce257-c08b-40ce-845f-012c6403252c

Approved on: 2018-08-10

Published on: 2019-08-17

HGVS expressions

NM_000277.2:c.1089delG

NM_000277.2(PAH):c.1089delG (p.Lys363Asnfs)

NC_000012.12:g.102843756del

CM000674.2:g.102843756del

NC_000012.11:g.103237534del

CM000674.1:g.103237534del

NC_000012.10:g.101761664del

NG_008690.1:g.78847del

NG_008690.2:g.119655del

NM_000277.1:c.1089del

NM_000277.2:c.1089del

NM_001354304.1:c.1089del

NM_000277.3:c.1089del

ENST00000307000.7:c.1074del

ENST00000549247.6:n.848del

ENST00000551114.2:n.751del

ENST00000553106.5:c.1089del

ENST00000635477.1:n.193del

ENST00000635528.1:n.604del

Pathogenic

PP4 PM2 PVS1

Evidence Links 1

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

PAH-specific ACMG/AMP criteria applied: PVS1: Frameshift variant; PM2: Absent from ExAC, gnomAD, 1000G, ESP; PP4: Detected in a patient with Classical PKU. (PMID:8659548). In summary this variant meets criteria to be classified as pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PVS1, PM2, PP4).

PP4

Detected in a patient with Classical PKU.

K363fsdelG detected on 1 chromosome in a patient with Classical PKU. Blood phenylalanine concentrations >1,200 umol/liter, normal blood tyrosine concentrations, and large concentrations of phenylalanine metabolites in urine. PubMed:8659548

PM2

Absent from ExAC, gnomAD, 1000G, ESP

PVS1

Frameshift variant

Curation History

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