U.S. flag

An official website of the United States government

NM_000277.3(PAH):c.1139C>T (p.Thr380Met) AND Marfanoid habitus and intellectual disability

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Jan 31, 2021
Review status:
no classifications from unflagged records
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:
RCV000850463.11

Allele description [Variation Report for NM_000277.3(PAH):c.1139C>T (p.Thr380Met)]

NM_000277.3(PAH):c.1139C>T (p.Thr380Met)

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.1139C>T (p.Thr380Met)
Other names:
p.T380M:ACG>ATG; NM_000277.1(PAH):c.1139C>T
HGVS:
  • NC_000012.12:g.102843706G>A
  • NG_008690.2:g.119705C>T
  • NM_000277.3:c.1139C>TMANE SELECT
  • NM_001354304.2:c.1139C>T
  • NP_000268.1:p.Thr380Met
  • NP_000268.1:p.Thr380Met
  • NP_001341233.1:p.Thr380Met
  • NC_000012.11:g.103237484G>A
  • NM_000277.1:c.1139C>T
  • P00439:p.Thr380Met
Protein change:
T380M; THR380MET
Links:
UniProtKB: P00439#VAR_001022; OMIM: 612349.0054; dbSNP: rs62642937
NCBI 1000 Genomes Browser:
rs62642937
Molecular consequence:
  • NM_000277.3:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.1139C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Marfanoid habitus and intellectual disability
Identifiers:
MedGen: CN263130

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
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV000992661.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992661Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
flagged submission
Reason: Claim with insufficient supporting evidence
Notes: None

(ACMG Guidelines, 2015)		Uncertain significancede novoresearch

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

Last Updated: Nov 10, 2024