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NM_000277.2(PAH):c.632C>T (p.Pro211Leu) AND Phenylketonuria

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000106364.1

Allele description

NM_000277.2(PAH):c.632C>T (p.Pro211Leu)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.2(PAH):c.632C>T (p.Pro211Leu)
HGVS:
  • NC_000012.12:g.102855210G>A
  • NG_008690.2:g.108201C>T
  • NM_000277.2:c.632C>T
  • NP_000268.1:p.Pro211Leu
  • NC_000012.11:g.103248988G>A
  • NM_000277.1:c.632C>T
Protein change:
P211L
Links:
dbSNP: rs281865443
NCBI 1000 Genomes Browser:
rs281865443
Molecular consequence:
  • NM_000277.2:c.632C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Phenylketonuria (PKU)
Synonyms:
Phenylketonurias; Classic phenylketonuria
Identifiers:
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
SCV000143864Inserm U 954, Faculté de Médecine de Nancy
no assertion criteria provided
probable-pathogenicnot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Inserm U 954, Faculté de Médecine de Nancy, SCV000143864.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Dec 6, 2017