NM_000314.8(PTEN):c.210-39A>G AND not specified

Clinical significance:Likely benign (Last evaluated: Feb 23, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000249036.1

Allele description [Variation Report for NM_000314.8(PTEN):c.210-39A>G]

NM_000314.8(PTEN):c.210-39A>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.210-39A>G
HGVS:
  • NC_000010.11:g.87931007A>G
  • NG_007466.2:g.72569A>G
  • NM_000314.8:c.210-39A>GMANE SELECT
  • NM_001304717.5:c.730-39A>G
  • NM_001304718.2:c.-541-39A>G
  • LRG_311t1:c.210-39A>G
  • LRG_311:g.72569A>G
  • NC_000010.10:g.89690764A>G
  • NM_000314.4:c.210-39A>G
  • NM_000314.6:c.210-39A>G
Links:
dbSNP: rs370918174
NCBI 1000 Genomes Browser:
rs370918174
Molecular consequence:
  • NM_000314.8:c.210-39A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304717.5:c.730-39A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304718.2:c.-541-39A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000303571PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely benigngermlineclinical testing

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

SCV000602116Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Feb 23, 2017)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

Sarquis MS, Agrawal S, Shen L, Pilarski R, Zhou XP, Eng C.

Am J Hum Genet. 2006 Jul;79(1):23-30. Epub 2006 May 22.

PubMed [citation]
PMID:
16773562
PMCID:
PMC1474112
See all PubMed Citations (4)

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV000303571.1

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000602116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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