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NM_000277.3(PAH):c.1042C>G (p.Leu348Val) AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 7, 2022
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:
RCV002251963.9

Allele description [Variation Report for NM_000277.3(PAH):c.1042C>G (p.Leu348Val)]

NM_000277.3(PAH):c.1042C>G (p.Leu348Val)

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.1042C>G (p.Leu348Val)
HGVS:
  • NC_000012.12:g.102844359G>C
  • NG_008690.2:g.119052C>G
  • NM_000277.3:c.1042C>GMANE SELECT
  • NM_001354304.2:c.1042C>G
  • NP_000268.1:p.Leu348Val
  • NP_000268.1:p.Leu348Val
  • NP_001341233.1:p.Leu348Val
  • NC_000012.11:g.103238137G>C
  • NM_000277.1:c.1042C>G
  • P00439:p.Leu348Val
Protein change:
L348V
Links:
UniProtKB: P00439#VAR_001012; dbSNP: rs62516092
NCBI 1000 Genomes Browser:
rs62516092
Molecular consequence:
  • NM_000277.3:c.1042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.1042C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002522979Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 7, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002522979.1

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

Description

ACMG classification criteria: PM2, PM3, PP3, PP4

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

Last Updated: Nov 3, 2024