NM_000314.8(PTEN):c.-765G>A AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000763685.1

Allele description [Variation Report for NM_000314.8(PTEN):c.-765G>A]

NM_000314.8(PTEN):c.-765G>A

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.-765G>A
HGVS:
  • NC_000010.11:g.87863705G>A
  • NG_007466.2:g.5268G>A
  • NG_033079.1:g.4733C>T
  • NM_000314.8:c.-765G>AMANE SELECT
  • NM_001304717.5:c.-245G>A
  • NM_001304718.2:c.-1469G>A
  • LRG_311t1:c.-764G>A
  • LRG_1087:g.4733C>T
  • LRG_311:g.5268G>A
  • NC_000010.10:g.89623462G>A
  • NM_000314.4:c.-764G>A
  • c.-765G>A[hg19]
Nucleotide change:
-764A-G
Links:
OMIM: 601728.0033; dbSNP: rs587776674
NCBI 1000 Genomes Browser:
rs587776674
Molecular consequence:
  • NM_000314.8:c.-765G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304717.5:c.-245G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304718.2:c.-1469G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Macrocephaly/autism syndrome
Identifiers:
MONDO: MONDO:0011537; MedGen: C1854416; Orphanet: 210548; OMIM: 605309
Name:
Meningioma, familial
Synonyms:
Meningioma, familial, susceptibility to
Identifiers:
MONDO: MONDO:0011789; MedGen: C3551915; Orphanet: 263662; OMIM: 607174
Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; OMIM: 176807; Human Phenotype Ontology: HP:0012125
Name:
VACTERL association with hydrocephalus
Synonyms:
VACTERL-H
Identifiers:
MONDO: MONDO:0010172; MedGen: C1848599; Orphanet: 3412; OMIM: 276950
Name:
Glioma susceptibility 2 (GLM2)
Identifiers:
MONDO: MONDO:0013092; MedGen: C2751642; Orphanet: 182067; OMIM: 613028
Name:
PTEN hamartoma tumor syndrome (PHTS)
Synonyms:
PTEN Hamartomatous Tumour Syndrome
Identifiers:
MONDO: MONDO:0017623; MedGen: C1959582
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
SCV000894565Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics,Fulgent Genetics, SCV000894565.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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