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NM_000314.8(PTEN):c.-9C>G AND Cowden syndrome 1

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 28, 2016
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:
RCV000409463.1

Allele description

NM_000314.8(PTEN):c.-9C>G

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.-9C>G
HGVS:
  • NC_000010.11:g.87864461C>G
  • NG_007466.2:g.6023C>G
  • NG_033079.1:g.3977G>C
  • NM_000314.8:c.-9C>GMANE SELECT
  • NM_001304717.5:c.511C>G
  • NM_001304718.2:c.-714C>G
  • NP_001291646.4:p.Leu171Val
  • LRG_311t1:c.-9C>G
  • LRG_1087:g.3977G>C
  • LRG_311:g.6023C>G
  • NC_000010.10:g.89624218C>G
  • NM_000314.4:c.-9C>G
Protein change:
L171V
Links:
dbSNP: rs11202592
NCBI 1000 Genomes Browser:
rs11202592
Molecular consequence:
  • NM_000314.8:c.-9C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304718.2:c.-714C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304717.5:c.511C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cowden syndrome 1 (CWS1)
Identifiers:
MONDO: MONDO:0008021; MedGen: CN072330; OMIM: 158350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000488430Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Benign
(Mar 28, 2016) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs.

Sabarinathan R, Tafer H, Seemann SE, Hofacker IL, Stadler PF, Gorodkin J.

Hum Mutat. 2013 Apr;34(4):546-56. doi: 10.1002/humu.22273. Erratum in: Hum Mutat. 2013 Jun;34(6):925.

PubMed [citation]
PMID:
23315997
PMCID:
PMC3708107

Association of the polymorphisms in the 5'-untranslated region of PTEN gene with type 2 diabetes in a Japanese population.

Ishihara H, Sasaoka T, Kagawa S, Murakami S, Fukui K, Kawagishi Y, Yamazaki K, Sato A, Iwata M, Urakaze M, Ishiki M, Wada T, Yaguchi S, Tsuneki H, Kimura I, Kobayashi M.

FEBS Lett. 2003 Nov 20;554(3):450-4.

PubMed [citation]
PMID:
14623110

Details of each submission

From Counsyl, SCV000488430.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2022