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NM_000277.3(PAH):c.215_223del (p.Leu72_Asp75delinsTyr) AND Phenylketonuria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 2020
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:
RCV002254727.2

Allele description [Variation Report for NM_000277.3(PAH):c.215_223del (p.Leu72_Asp75delinsTyr)]

NM_000277.3(PAH):c.215_223del (p.Leu72_Asp75delinsTyr)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.3(PAH):c.215_223del (p.Leu72_Asp75delinsTyr)
HGVS:
  • NC_000012.12:g.102894864_102894872del
  • NG_008690.2:g.68539_68547del
  • NM_000277.3:c.215_223delMANE SELECT
  • NM_001354304.2:c.215_223del
  • NP_000268.1:p.Leu72_Asp75delinsTyr
  • NP_001341233.1:p.Leu72_Asp75delinsTyr
  • NC_000012.11:g.103288642_103288650del
  • NC_000012.12:g.102894864_102894872delCTTTCTTTA
Links:
dbSNP: rs2136701938
NCBI 1000 Genomes Browser:
rs2136701938
Molecular consequence:
  • NM_000277.3:c.215_223del - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001354304.2:c.215_223del - inframe_indel - [Sequence Ontology: SO:0001820]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106381Molecular Genetics Laboratory, Mashhad University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 1, 2020) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedresearch
not providedgermlineyes1not providednot providednot providednot providedresearch

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

Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes.

Khaghani F, Eshraghi P, Hamzehloei T.

Eur J Med Genet. 2022 Sep;65(9):104536. doi: 10.1016/j.ejmg.2022.104536. Epub 2022 Jun 8.

PubMed [citation]
PMID:
35690318

Details of each submission

From Molecular Genetics Laboratory, Mashhad University of Medical Sciences, SCV002106381.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (2)
21not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023