NM_000314.8(PTEN):c.182A>G (p.His61Arg) AND Neoplasm of ovary

Clinical significance:Likely pathogenic (Last evaluated: Dec 1, 2018)

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:
RCV000785574.1

Allele description [Variation Report for NM_000314.8(PTEN):c.182A>G (p.His61Arg)]

NM_000314.8(PTEN):c.182A>G (p.His61Arg)

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.182A>G (p.His61Arg)
HGVS:
  • NC_000010.11:g.87925530A>G
  • NG_007466.2:g.67092A>G
  • NM_000314.8:c.182A>GMANE SELECT
  • NM_001304717.5:c.701A>G
  • NM_001304718.2:c.-541-5516A>G
  • NP_000305.3:p.His61Arg
  • NP_001291646.4:p.His234Arg
  • LRG_311t1:c.182A>G
  • LRG_311:g.67092A>G
  • NC_000010.10:g.89685287A>G
  • NM_000314.4:c.182A>G
  • NM_000314.6:c.182A>G
  • P60484:p.His61Arg
Protein change:
H234R
Links:
UniProtKB: P60484#VAR_026253; dbSNP: rs398123316
NCBI 1000 Genomes Browser:
rs398123316
Molecular consequence:
  • NM_001304718.2:c.-541-5516A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000314.8:c.182A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.701A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neoplasm of ovary
Synonyms:
Ovarian tumor; OVARIAN CANCER, SOMATIC; Ovarian neoplasm; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; OMIM: 167000; Human Phenotype Ontology: HP:0100615

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000924147German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologneno assertion criteria providedLikely pathogenic
(Dec 1, 2018)
somaticresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne, SCV000924147.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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