U.S. flag

An official website of the United States government

NM_000277.3(PAH):c.1066-1G>C AND Phenylketonuria

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 18, 2019
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:
RCV001093522.1

Allele description [Variation Report for NM_000277.3(PAH):c.1066-1G>C]

NM_000277.3(PAH):c.1066-1G>C

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.3(PAH):c.1066-1G>C
HGVS:
  • NC_000012.12:g.102843780C>G
  • NG_008690.2:g.119631G>C
  • NM_000277.3:c.1066-1G>CMANE SELECT
  • NM_001354304.2:c.1066-1G>C
  • NC_000012.11:g.103237558C>G
Links:
dbSNP: rs62508684
NCBI 1000 Genomes Browser:
rs62508684
Molecular consequence:
  • NM_000277.3:c.1066-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001354304.2:c.1066-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001250562ClinGen PAH Variant Curation Expert Panel
reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)		Pathogenic
(Oct 18, 2019) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Li N, Jia H, Liu Z, Tao J, Chen S, Li X, Deng Y, Jin X, Song J, Zhang L, Liang Y, Wang W, Zhu J.

Sci Rep. 2015 Oct 27;5:15769. doi: 10.1038/srep15769.

PubMed [citation]
PMID:
26503515
PMCID:
PMC4621502

Details of each submission

From ClinGen PAH Variant Curation Expert Panel, SCV001250562.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

This c.1066-1G>C (IVS10-1G>C) variant in PAH was reported in one Chinese patient with PAH deficiency (PMID: 26503515). DHPR activity, biopterin and/or pteridine analysis was performed to rule out other causes of hyperphenylalaninemia. This variant is absent from the population databases ExAC and gnomAD. This variant in the -1 splice acceptor site results in exon skipping. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4_moderate.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023