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NM_000314.6(PTEN):c.-868G>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000130678.11

Allele description [Variation Report for NM_000314.6(PTEN):c.-868G>C]

NM_000314.6(PTEN):c.-868G>C

Genes:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.6(PTEN):c.-868G>C
HGVS:
  • NC_000010.11:g.87863601G>C
  • NG_007466.2:g.5164G>C
  • NG_033079.1:g.4837C>G
  • NG_183718.1:g.322G>C
  • NM_000314.4:c.-868G>C
  • NM_000314.6:c.-868G>C
  • NM_001304717.4:c.-349G>C
  • NM_001304718.1:c.-1573G>C
  • LRG_311t1:c.-868G>C
  • LRG_1087:g.4837C>G
  • LRG_311:g.5164G>C
  • NC_000010.10:g.89623358G>C
  • c.-869G>C[hg19]
Links:
dbSNP: rs587782133
NCBI 1000 Genomes Browser:
rs587782133

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000185564Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))
Uncertain significance
(Jan 17, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000185564.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024