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]

Link to SEPIO compliant JSON-LD document

Criteria Specification: CSpec Registry PDF

Variant: NM_000277.2(PAH):c.806delT (p.Ile269Thrfs)

CA229778

102844 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: f5d8dc3f-dba0-4dc9-98cd-4a22b6a11a83

HGVS expressions

NM_000277.2:c.806delT

NM_000277.2(PAH):c.806delT (p.Ile269Thrfs)

NC_000012.12:g.102852851del

CM000674.2:g.102852851del

NC_000012.11:g.103246629del

CM000674.1:g.103246629del

NC_000012.10:g.101770759del

NG_008690.1:g.69752del

NG_008690.2:g.110560del

NM_000277.1:c.806del

NM_000277.2:c.806del

NM_001354304.1:c.806del

NM_000277.3:c.806del

ENST00000307000.7:c.791del

ENST00000549247.6:n.565del

ENST00000553106.5:c.806del

Pathogenic

PP4 PM2 PVS1

Expert Panel

Phenylketonuria VCEP

Evidence Links 1

Evidence submitted by expert panel

Phenylketonuria VCEP

PAH-specific ACMG/AMP criteria applied: PVS1: Frameshift variant; PM2: Extremely low frequency. gnomAD MAF=0.00007.; PP4: Detected in a PKU patient. BH4 deficiency not assessed. (PMID:9012412). 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 PKU patient. BH4 deficiency not assessed.

I269fsdelT detected on 1 PKU chromosome. PubMed:9012412

PM2

Extremely low frequency. gnomAD MAF=0.00007.

PVS1

Frameshift variant

Approved on: 2018-08-10

Published on: 2019-08-17

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