U.S. flag

An official website of the United States government

NM_000277.3(PAH):c.361T>G (p.Phe121Val) AND Phenylketonuria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 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:
RCV001093504.1

Allele description [Variation Report for NM_000277.3(PAH):c.361T>G (p.Phe121Val)]

NM_000277.3(PAH):c.361T>G (p.Phe121Val)

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.361T>G (p.Phe121Val)
HGVS:
  • NC_000012.12:g.102877542A>C
  • NG_008690.2:g.85869T>G
  • NM_000277.3:c.361T>GMANE SELECT
  • NM_001354304.2:c.361T>G
  • NP_000268.1:p.Phe121Val
  • NP_001341233.1:p.Phe121Val
  • NC_000012.11:g.103271320A>C
Protein change:
F121V
Links:
dbSNP: rs1876627337
NCBI 1000 Genomes Browser:
rs1876627337
Molecular consequence:
  • NM_000277.3:c.361T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.361T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001250527ClinGen PAH Variant Curation Expert Panel
reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)		Uncertain significance
(Nov 17, 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, SCV001250527.1

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

Description

The c.361T>G (p.Phe121Val) variant in PAH has been reported in a Chinese patient with PAH deficiency (BH4 deficiency excluded) (PP4_Moderate; PMID: 26503515) This variant is absent from 1000G, ESP, ExAC and gnomAD (PM2). A deleterious effect is predicted in SIFT, Polyphen-2, MutationTaster, and REVEL=0.99. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3.

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

Last Updated: Apr 23, 2022