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NM_000314.8(PTEN):c.392C>T (p.Thr131Ile) AND Macrocephaly-autism syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 21, 2012
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:
RCV000032873.4

Allele description [Variation Report for NM_000314.8(PTEN):c.392C>T (p.Thr131Ile)]

NM_000314.8(PTEN):c.392C>T (p.Thr131Ile)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.392C>T (p.Thr131Ile)
Other names:
NM_000314.6(PTEN):c.392C>T
HGVS:
  • NC_000010.11:g.87933151C>T
  • NG_007466.2:g.74713C>T
  • NM_000314.8:c.392C>TMANE SELECT
  • NM_001304717.5:c.911C>T
  • NM_001304718.2:c.-359C>T
  • NP_000305.3:p.Thr131Ile
  • NP_001291646.4:p.Thr304Ile
  • LRG_311:g.74713C>T
  • NC_000010.10:g.89692908C>T
  • P60484:p.Thr131Ile
Protein change:
T131I; THR131ILE
Links:
UniProtKB: P60484#VAR_076762; OMIM: 601728.0043; dbSNP: rs397514560
NCBI 1000 Genomes Browser:
rs397514560
Molecular consequence:
  • NM_001304718.2:c.-359C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.392C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.911C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Macrocephaly-autism syndrome
Synonyms:
Macrocephaly/autism syndrome
Identifiers:
MONDO: MONDO:0011537; MedGen: C1854416; Orphanet: 210548; OMIM: 605309

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056643OMIM
no assertion criteria provided
Pathogenic
(Dec 21, 2012) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, et al.

Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.

PubMed [citation]
PMID:
23160955
PMCID:
PMC3528801

Details of each submission

From OMIM, SCV000056643.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 49-month-old non-Hispanic white male diagnosed with autism (605309), O'Roak et al. (2012) identified a heterozygous de novo thr131-to-ile (T131I) mutation in the PTEN gene. The patient had very low verbal and nonverbal IQ scores of 55 and 50, respectively, with a low adaptive score of 73. There was a history of speech delay and possible nonfebrile seizures; EEG was normal. Head circumference was 57.8 cm (z score = 4.7).

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

Last Updated: Oct 21, 2023