NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Apr 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622559.1

Allele description [Variation Report for NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)]

NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)

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.80A>G (p.Tyr27Cys)
HGVS:
  • NC_000010.11:g.87894025A>G
  • NC_000010.11:g.87894025A>G
  • NG_007466.2:g.35587A>G
  • NM_000314.8:c.80A>GMANE SELECT
  • NM_001304717.5:c.599A>G
  • NM_001304718.2:c.-626A>G
  • NP_000305.3:p.Tyr27Cys
  • NP_001291646.4:p.Tyr200Cys
  • LRG_311t1:c.80A>G
  • LRG_311:g.35587A>G
  • NC_000010.10:g.89653782A>G
  • NM_000314.4:c.80A>G
  • NM_000314.7(PTEN):c.80A>G
  • p.Tyr27Cys
Protein change:
Y200C
Links:
dbSNP: rs886041877
NCBI 1000 Genomes Browser:
rs886041877
Molecular consequence:
  • NM_001304718.2:c.-626A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.80A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.599A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742253Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Apr 13, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, et al.

Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20.

PubMed [citation]
PMID:
24375884
PMCID:
PMC5234041

Details of each submission

From Ambry Genetics, SCV000742253.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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