NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG AND Phenylketonuria

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 8, 1990
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000000615.76

Allele description [Variation Report for NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG]

NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_000277.3(PAH):c.169-4949_352+1467delinsGGCACCTG

HGVS:

NC_000012.12:g.102893268_102899867delinsCAGGTGCC
NG_008690.2:g.63544_70143delinsGGCACCTG
NM_000277.3:c.169-4949_352+1467delinsGGCACCTGMANE SELECT
NM_001354304.2:c.169-4949_352+1467delinsGGCACCTG
NP_000268.1:p.Glu57Cysfs
AF404777.1:g.45042_51644delinsGGCACCTG
NC_000012.11:g.103287046_103293645delinsCAGGTGCC
NG_008690.1:g.22736_29335delinsGGCACCTG
NM_000277.1:c.169-4950_352+1467delinsGGCACCTG

Note:

A deletion resulting in loss of exon 3, found in Yemenite Jews. Breakpoints were established by MLPA analysis.

Nucleotide change:

EX3DEL

Links:

OMIM: 612349.0008

Molecular consequence:

NM_000277.3:c.169-4949_352+1467delinsGGCACCTG - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354304.2:c.169-4949_352+1467delinsGGCACCTG - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_000277.3:c.169-4949_352+1467delinsGGCACCTG - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001354304.2:c.169-4949_352+1467delinsGGCACCTG - splice donor variant - [Sequence Ontology: SO:0001575]

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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JGI_CAAK8862.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7659777 3'...
JGI_CAAK8862.rev NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7659777 3', mRNA sequence
gi|71605628|gnl|dbEST|30436000|gb|C 66.2|

Nucleotide
JGI_CAAJ16274.fwd NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7646175 5...
JGI_CAAJ16274.fwd NIH_XGC_tropBrn2 Xenopus tropicalis cDNA clone IMAGE:7646175 5', mRNA sequence
gi|58358409|gnl|dbEST|27495997|gb|C 82.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020765	OMIM	no assertion criteria provided	Pathogenic (Mar 8, 1990)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 2573272, 1968617 Avigad, S., Cohen, B. E., Woo, S. L. C., Shiloh, Y. A specific deletion within the phenylalanine hydroxylase gene is common to most Yemenite Jewish phenylketonuria patients. (Abstract) Am. J. Hum. Genet. 41: A205-only, 1987.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020765

OMIM

no assertion criteria provided

Pathogenic
(Mar 8, 1990)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Avigad, S., Cohen, B. E., Woo, S. L. C., Shiloh, Y. A specific deletion within the phenylalanine hydroxylase gene is common to most Yemenite Jewish phenylketonuria patients. (Abstract) Am. J. Hum. Genet. 41: A205-only, 1987.

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Summary from all submissions

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

Citations

PubMed

Molecular genetics of phenylketonuria and its implications.

Levy HL.

Am J Hum Genet. 1989 Nov;45(5):667-70. Review. No abstract available.

PubMed [citation]

PMID:: 2573272
PMCID:: PMC1683445

A single origin of phenylketonuria in Yemenite Jews.

Avigad S, Cohen BE, Bauer S, Schwartz G, Frydman M, Woo SL, Niny Y, Shiloh Y.

Nature. 1990 Mar 8;344(6262):168-70.

PubMed [citation]

PMID:: 1968617

Details of each submission

From OMIM, SCV000020765.68

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

Description

Levy (1989) reviewed the then-known mutations in the PAH gene causing phenylketonuria (PKU; 261600), including a deletion of exon 3 described by Avigad et al. (1987) in Yemenite Jews.

Avigad et al. (1990) reported that a deletion spanning the third exon of the PAH gene is responsible for all PKU cases among Yemenite Jews. Using a molecular probe that detects carriers of the deletion, they identified 5 carriers among 200 randomly selected volunteers from this community who were not related to the known PKU families. Although the deleted gene was traced to 25 different locations throughout Yemen, family histories and official documents of the Yemenite Jewish community showed that the common ancestor of all the carriers of this defect lived in San'a, the capital of Yemen, before the 18th century.

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

Last Updated: May 1, 2024

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