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

Variant: NM_000277.3(PAH):c.1166del (p.Ala389fs)

CA229368

102543 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 05835628-828f-4c31-a626-188c98818f83

HGVS expressions

NM_000277.3:c.1166del

NM_000277.3(PAH):c.1166del (p.Ala389fs)

NC_000012.12:g.102843679del

CM000674.2:g.102843679del

NC_000012.11:g.103237457del

CM000674.1:g.103237457del

NC_000012.10:g.101761587del

NG_008690.1:g.78924del

NG_008690.2:g.119732del

NM_000277.1:c.1166del

NM_000277.2:c.1166del

NM_001354304.1:c.1166del

NM_001354304.2:c.1166del

ENST00000307000.7:c.1151del

ENST00000549247.6:n.925del

ENST00000551114.2:n.828del

ENST00000553106.5:c.1166del

ENST00000635477.1:n.270del

ENST00000635528.1:n.681del

Pathogenic

PM2 PVS1 PP4

Evidence Links 1

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1166del (p.Ala389fs) variant in PAH has been detected in 1 patient with PKU, Phe = 1045umol/L; BH4 deficiency not excluded (PMID: 25323746; PP4). This variant is absent from population databases (PM2), and is a variant predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. Coding exon number 11 out of 13 coding exons (11 out of total exons) (PVS1). In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4.

PM2

Variant absent from population databases.

PVS1

Frameshift variant, predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. Coding exon number 11 out of 13 coding exons (11 out of total exons).

PP4

PMID: 25323746 - A389fs detected in 1 patient with PKU, Phe = 1045umol/L; BH4 deficiency not excluded

PubMed:25323746

Approved on: 2020-10-29

Published on: 2020-10-29

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