U.S. flag

An official website of the United States government

NM_000314.8(PTEN):c.210-2A>G AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001542802.1

Allele description [Variation Report for NM_000314.8(PTEN):c.210-2A>G]

NM_000314.8(PTEN):c.210-2A>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.210-2A>G
HGVS:
  • NC_000010.11:g.87931044A>G
  • NG_007466.2:g.72606A>G
  • NM_000314.8:c.210-2A>GMANE SELECT
  • NM_001304717.5:c.730-2A>G
  • NM_001304718.2:c.-541-2A>G
  • LRG_311t1:c.210-2A>G
  • LRG_311:g.72606A>G
  • NC_000010.10:g.89690801A>G
  • NM_000314.4:c.210-2A>G
  • NM_001304717.5:c.729-2A>G
Links:
dbSNP: rs1564828914
NCBI 1000 Genomes Browser:
rs1564828914
Molecular consequence:
  • NM_000314.8:c.210-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001304717.5:c.730-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001304718.2:c.-541-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV001761178MutSpliceDB: a database of splice sites variants effects on splicing, NIH
no classification provided
not providedsomaticin vivo

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot applicablenot providednot providednot providednot providednot providedin vivo

Details of each submission

From MutSpliceDB: a database of splice sites variants effects on splicing, NIH, SCV001761178.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vivonot provided

Description

Intron inclusion between exons 3 & 4, based on review of RNA-seq in TCGA-EB-A44P-01A tumor which has PTEN NM_000314.8:c.210-2A>G variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024