NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) AND Phenylketonuria

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 10, 2018
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000106352.4

Allele description [Variation Report for NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer)]

NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer)

Other names:

NM_000277.2(PAH):c.205_210dup

HGVS:

NC_000012.12:g.102894877_102894882dup
NG_008690.2:g.68530_68535dup
NM_000277.3:c.206_211dupMANE SELECT
NM_001354304.2:c.206_211dup
NP_000268.1:p.Pro69_Ser70dup
NP_001341233.1:p.Pro69_Ser70dup
NC_000012.11:g.103288654_103288659dup
NC_000012.11:g.103288655_103288660dup
NC_000012.12:g.102894876_102894881dup
NM_000277.2:c.206_211dup

Links:

dbSNP: rs281865431

NCBI 1000 Genomes Browser:

rs281865431

Molecular consequence:

NM_000277.3:c.206_211dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001354304.2:c.206_211dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Phenylketonuria (PKU)
Synonyms:: Phenylketonurias; Oligophrenia phenylpyruvica; Folling disease
Identifiers:: MONDO: MONDO:0009861; MedGen: C0031485; Orphanet: 716; OMIM: 261600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000143851	Inserm U 954, Faculté de Médecine de Nancy	no assertion criteria provided	probable-pathogenic	unknown	not provided
SCV000852110	ClinGen PAH Variant Curation Expert Panel	reviewed by expert panel (ClinGen PAH ACMG Specifications v1)	Uncertain significance (Aug 10, 2018)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000143851

Inserm U 954, Faculté de Médecine de Nancy

no assertion criteria provided

probable-pathogenic

unknown

not provided

SCV000852110

ClinGen PAH Variant Curation Expert Panel

reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)

Uncertain significance
(Aug 10, 2018)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Details of each submission

From Inserm U 954, Faculté de Médecine de Nancy, SCV000143851.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From ClinGen PAH Variant Curation Expert Panel, SCV000852110.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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