NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND Cowden syndrome 1

Clinical significance:Uncertain significance (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000656112.1

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]

Condition(s)

Name:
Cowden syndrome 1 (CWS1)
Identifiers:
MONDO: MONDO:0008021; MedGen: CN072330; OMIM: 158350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000598612Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicinecriteria provided, single submitter
Uncertain significance
(Sep 1, 2017)
inherited, unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1not providedresearch
not providedunknownunknown1not providednot provided1not providedresearch

Citations

PubMed

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, Rudzka-Dybala M, Jamroz E, Pyrkosz A, Jakubiuk-Tomaszuk A, Iwanowski P, Gieruszczak-Bialek D, Piotrowicz M, et al.

Eur J Hum Genet. 2018 Aug;26(8):1121-1131. doi: 10.1038/s41431-018-0137-z. Epub 2018 Apr 30.

PubMed [citation]
PMID:
29706646
PMCID:
PMC6057976

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000598612.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not provided1not providednot providedresearch PubMed (1)

Description

this variant was indentified in an individual with malformations of cortical development

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1not providednot provided1not providednot providednot provided
2unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 27, 2021

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