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.1044_1047dup (p.Ser350fs)

CA229303

102493 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 5fe311bd-16b9-4688-ac68-62ca5ee2023f

HGVS expressions

NM_000277.3:c.1044_1047dup

NM_000277.3(PAH):c.1044_1047dup (p.Ser350fs)

NC_000012.12:g.102844354_102844357dup

CM000674.2:g.102844354_102844357dup

NC_000012.11:g.103238132_103238135dup

CM000674.1:g.103238132_103238135dup

NC_000012.10:g.101762262_101762265dup

NG_008690.1:g.78246_78249dup

NG_008690.2:g.119054_119057dup

ENST00000553106.6:c.1044_1047dup

ENST00000307000.7:c.1029_1032dup

ENST00000549247.6:n.803_806dup

ENST00000551114.2:n.706_709dup

ENST00000553106.5:c.1044_1047dup

ENST00000635477.1:n.148_151dup

ENST00000635528.1:n.559_562dup

NM_000277.1:c.1044_1047dup

NM_000277.2:c.1044_1047dup

NM_001354304.1:c.1044_1047dup

NM_001354304.2:c.1044_1047dup

Likely Pathogenic

PVS1 PM2

PP4

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.1044_1047dup (p.Ser350fs) variant in PAH is absent from population databases (PM2). This frameshift variant is predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. Coding exon number 10 out of 13 coding exons (10 out of total exons) (PVS1). This variant is absent from the literature. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2.

PVS1

Frameshift variant, predicted to undergo NMD, not located in last exon or last 50bp of preliminary exon. Coding exon number 10 out of 13 coding exons (10 out of total exons).

PM2

Variant absent from population databases.

PP4

Variant absent from literature (reported in BioPKU).

Approved on: 2020-08-31

Published on: 2021-12-10

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