U.S. flag

An official website of the United States government

NM_000314.8(PTEN):c.-799G>C AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 13, 2013
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:
RCV000115569.5

Allele description [Variation Report for NM_000314.8(PTEN):c.-799G>C]

NM_000314.8(PTEN):c.-799G>C

Genes:
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [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.-799G>C
Other names:
c.-799G>C
HGVS:
  • NC_000010.11:g.87863671G>C
  • NG_007466.2:g.5234G>C
  • NG_033079.1:g.4767C>G
  • NM_000314.8:c.-799G>CMANE SELECT
  • NM_001304717.5:c.-279G>C
  • NM_001304718.2:c.-1503G>C
  • LRG_311t1:c.-798G>C
  • LRG_1087:g.4767C>G
  • LRG_311:g.5234G>C
  • NC_000010.10:g.89623428G>C
  • NM_000314.4:c.-798G>C
  • NM_000314.6:c.-798G>C
  • c.-799G>C[hg19]
Links:
dbSNP: rs587779992
NCBI 1000 Genomes Browser:
rs587779992
Molecular consequence:
  • NM_000314.8:c.-799G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304717.5:c.-279G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304718.2:c.-1503G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000185531Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))		Likely benign
(Dec 13, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000185531.1

#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: Sep 29, 2024