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_000277.2(PAH):c.205_210dup (p.Ser70_Arg71insProSer)

CA267647

120271 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 4b73962a-e05e-466d-b474-fa8e50ec1626

Approved on: 2018-08-10

Published on: 2019-08-17

HGVS expressions

NM_000277.2:c.205_210dup

NM_000277.2(PAH):c.205_210dup (p.Ser70_Arg71insProSer)

NM_000277.1:c.206_211dup

NM_000277.2:c.206_211dup

NM_001354304.1:c.206_211dup

NM_000277.3:c.206_211dup

ENST00000307000.7:c.191_196dup

ENST00000546844.1:c.206_211dup

ENST00000548677.2:n.293_298dup

ENST00000548928.1:n.128_133dup

ENST00000549111.5:n.302_307dup

ENST00000550978.6:n.190_195dup

ENST00000551337.5:c.206_211dup

ENST00000551988.5:n.295_300dup

ENST00000553106.5:c.206_211dup

ENST00000635500.1:n.174_179dup

NC_000012.12:g.102894877_102894882dup

CM000674.2:g.102894877_102894882dup

NC_000012.11:g.103288655_103288660dup

CM000674.1:g.103288655_103288660dup

NC_000012.10:g.101812785_101812790dup

NG_008690.1:g.27722_27727dup

NG_008690.2:g.68530_68535dup

Uncertain Significance

PM4 PM2

Evidence Links 0

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: PM2: chr12-103288654--GAGAAG; Absent from population databases; PM4: in-frame insertion. In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PM4).

PM4

in-frame insertion

PM2

chr12-103288654--GAGAAG Absent from population databases

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