NM_000314.6(PTEN):c.500C>A (p.Thr167Asn) AND Macrocephaly/autism syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 21, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032872.3

Allele description [Variation Report for NM_000314.6(PTEN):c.500C>A (p.Thr167Asn)]

NM_000314.6(PTEN):c.500C>A (p.Thr167Asn)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.6(PTEN):c.500C>A (p.Thr167Asn)
HGVS:
  • NC_000010.11:g.87952125C>A
  • NG_007466.2:g.93687C>A
  • NM_000314.6:c.500C>A
  • NM_001304718.1:c.-92C>A
  • NP_000305.3:p.Thr167Asn
  • LRG_311t1:c.500C>A
  • LRG_311:g.93687C>A
  • LRG_311p1:p.Thr167Asn
  • NC_000010.10:g.89711882C>A
  • NM_000314.4:c.500C>A
Protein change:
T167N; THR167ASN
Links:
OMIM: 601728.0042; dbSNP: 397514559
NCBI 1000 Genomes Browser:
rs397514559
Molecular consequence:
  • NM_001304718.1:c.-92C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.6:c.500C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Macrocephaly/autism syndrome
Identifiers:
MedGen: C1854416; Orphanet: 210548; OMIM: 605309
Age of onset:
Infancy
Prevalence:
<1 / 1 000 000 210548

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056642OMIMno assertion criteria providedPathogenic
(Dec 21, 2012)
germlineliterature only

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

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.

PubMed [citation]
PMID:
23160955
PMCID:
PMC3528801

Details of each submission

From OMIM, SCV000056642.1

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

Description

In an 8-year-old non-Hispanic white female diagnosed with autism (605309), O'Roak et al. (2012) identified a heterozygous de novo thr167-to-asn (T167N) mutation in the PTEN gene. The patient had very low verbal IQ of 57, low nonverbal IQ of 77, and low adaptive score of 79. There was a history of speech delay with loss of words during development. Head circumference was 56 cm (z score = 2.8).

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

Last Updated: Dec 6, 2016