NM_000277.3(PAH):c.693_694del (p.Gln232fs) AND Phenylketonuria

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 17, 2022
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:: RCV002309032.2

Allele description [Variation Report for NM_000277.3(PAH):c.693_694del (p.Gln232fs)]

NM_000277.3(PAH):c.693_694del (p.Gln232fs)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_000277.3(PAH):c.693_694del (p.Gln232fs)

HGVS:

NC_000012.12:g.102855148GA[1]
NG_008690.2:g.108260TC[1]
NM_000277.3:c.693_694delMANE SELECT
NM_001354304.2:c.693_694del
NP_000268.1:p.Gln232fs
NP_001341233.1:p.Gln232fs
NC_000012.11:g.103248926GA[1]

Protein change:

Q232fs

Molecular consequence:

NM_000277.3:c.693_694del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354304.2:c.693_694del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002602102	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))	Likely pathogenic (Mar 17, 2022)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002602102

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))

Likely pathogenic
(Mar 17, 2022)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Myriad Genetics, Inc., SCV002602102.2

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

Description

NM_000277.1(PAH):c.693_694delTC(Q232Ifs*50) is expected to be pathogenic in the context of phenylalanine hydroxylase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PAH, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022

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