NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn) AND Phenylketonuria

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 13, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000721919.1

Allele description [Variation Report for NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn)]

NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn)

HGVS:

NC_000012.12:g.102866634_102866635delinsGT
NG_008690.2:g.96776_96777delinsAC
NM_000277.1:c.470_471delinsAC
NM_000277.3:c.470_471delinsACMANE SELECT
NM_001354304.2:c.470_471delinsAC
NP_000268.1:p.Arg157Asn
NP_001341233.1:p.Arg157Asn
NC_000012.11:g.103260412_103260413delinsGT
NM_000277.2:c.470_471delGAinsAC

Protein change:

R157N

Links:

dbSNP: rs1565853495

NCBI 1000 Genomes Browser:

rs1565853495

Molecular consequence:

NM_000277.3:c.470_471delinsAC - missense variant - [Sequence Ontology: SO:0001583]
NM_001354304.2:c.470_471delinsAC - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000852058	Core Molecular Diagnostic Lab, McGill University Health Centre	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 13, 2018)	germline, paternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000852058

Core Molecular Diagnostic Lab, McGill University Health Centre

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 13, 2018)

germline, paternal

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	1	1	not provided	not provided	not provided	clinical testing
not provided	germline	no	2	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Core Molecular Diagnostic Lab, McGill University Health Centre, SCV000852058.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		2	not provided	1	not provided
2	paternal	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Oct 8, 2024

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