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NM_000277.3(PAH):c.934G>T (p.Gly312Cys) AND Phenylketonuria

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 6, 2017
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:
RCV000515773.1

Allele description [Variation Report for NM_000277.3(PAH):c.934G>T (p.Gly312Cys)]

NM_000277.3(PAH):c.934G>T (p.Gly312Cys)

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.934G>T (p.Gly312Cys)
HGVS:
  • NC_000012.12:g.102846930C>A
  • NG_008690.2:g.116481G>T
  • NM_000277.3:c.934G>TMANE SELECT
  • NM_001354304.2:c.934G>T
  • NP_000268.1:p.Gly312Cys
  • NP_001341233.1:p.Gly312Cys
  • NC_000012.11:g.103240708C>A
  • NM_000277.2:c.934G>T
Protein change:
G312C
Links:
dbSNP: rs763115697
NCBI 1000 Genomes Browser:
rs763115697
Molecular consequence:
  • NM_000277.3:c.934G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.934G>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein activity [Variation Ontology: 0053]
Observations:
2

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
SCV000611754Unidade de Bioquimica Genetica, Centro Hospitalar do Porto
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 6, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

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

Details of each submission

From Unidade de Bioquimica Genetica, Centro Hospitalar do Porto, SCV000611754.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
21not providednot providedclinical testing PubMed (1)

Description

The variant was found in two sisters with a biochemical diagnosis of phenylketonuria in compound heterozygosity with IVS12+1G>A (c.1315+1G>A) in intron 12, a known pathogenic mutation. The variant is not present in ClinVar database. It was predicted as damaging by the in silico tools PROVEAN, SIFT, PolyPhen-2, and Mutation Taster.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022