NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) AND PTEN hamartoma tumor syndromes

Clinical significance:Likely pathogenic (Last evaluated: Jan 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001258059.1

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:
PTEN hamartoma tumor syndromes
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434890Human Genome Sequencing Center Clinical Lab, Baylor College of Medicinecriteria provided, single submitter
Likely pathogenic
(Jan 14, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001434890.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.464A>G (p.Tyr155Cys) variant in the PTEN gene has been reported in multiple individuals with Cowden's disease or PTEN hamartoma tumor syndrome (PMID 12614768, 17942903, 19265751, 23335809, 23399955, 27531073). This variant is absent from large databases of genetic variation in the general population. In vitro phosphatase activity assay demonstrated that the activity of the mutant protein is equivalent to a null allele (PMID 10866302). Multiple lines of algorithms predict deleterious effect of the p.Tyr155Cys change. Therefore, the c c.464A>G (p.Tyr155Cys) variant in the PTEN gene is classified as likely pathogenic.

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

Last Updated: Aug 27, 2021

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