NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Jun 5, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000491012.2

Allele description [Variation Report for NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)]

NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)

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.464A>G (p.Tyr155Cys)
HGVS:
  • NC_000010.11:g.87933223A>G
  • NG_007466.2:g.74785A>G
  • NM_000314.8:c.464A>GMANE SELECT
  • NM_001304717.5:c.983A>G
  • NM_001304718.2:c.-287A>G
  • NP_000305.3:p.Tyr155Cys
  • NP_001291646.4:p.Tyr328Cys
  • LRG_311t1:c.464A>G
  • LRG_311:g.74785A>G
  • NC_000010.10:g.89692980A>G
  • NM_000314.4:c.464A>G
  • NM_000314.6:c.464A>G
  • NM_000314.7(PTEN):c.464A>G
  • p.Tyr155Cys
Protein change:
Y155C
Links:
dbSNP: rs1060500126
NCBI 1000 Genomes Browser:
rs1060500126
Molecular consequence:
  • NM_001304718.2:c.-287A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.464A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.983A>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
SCV000579967Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jun 5, 2014)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asian/Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Retinal angioma in a patient with Cowden disease.

Gicquel JJ, Vabres P, Bonneau D, MerciƩ M, Handiri L, Dighiero P.

Am J Ophthalmol. 2003 Mar;135(3):400-2.

PubMed [citation]
PMID:
12614768

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

Ngeow J, Heald B, Rybicki LA, Orloff MS, Chen JL, Liu X, Yerian L, Willis J, Lehtonen HJ, Lehtonen R, Mester JL, Moline J, Burke CA, Church J, Aaltonen LA, Eng C.

Gastroenterology. 2013 Jun;144(7):1402-9, 1409.e1-5. doi: 10.1053/j.gastro.2013.02.001. Epub 2013 Feb 8.

PubMed [citation]
PMID:
23399955
PMCID:
PMC3969031
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000579967.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian/Caucasian1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 27, 2021

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