U.S. flag

An official website of the United States government

NM_000314.6(PTEN):c.-850C>T AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 23, 2023
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:
RCV003387814.1

Allele description [Variation Report for NM_000314.6(PTEN):c.-850C>T]

NM_000314.6(PTEN):c.-850C>T

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.-850C>T
HGVS:
  • NC_000010.11:g.87863619C>T
  • NG_007466.2:g.5182C>T
  • NG_033079.1:g.4819G>A
  • NG_183718.1:g.340C>T
  • NM_000314.4:c.-850C>T
  • NM_000314.6:c.-850C>T
  • NM_001304717.4:c.-331C>T
  • NM_001304718.1:c.-1555C>T
  • LRG_311t1:c.-850C>T
  • LRG_1087:g.4819G>A
  • LRG_311:g.5182C>T
  • NC_000010.10:g.89623376C>T
Links:
dbSNP: rs559145151
NCBI 1000 Genomes Browser:
rs559145151

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004100103Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Sep 23, 2023)
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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004100103.1

#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 16, 2024