NM_000314.8(PTEN):c.*10del AND Hereditary cancer-predisposing syndrome

Clinical significance:Benign/Likely benign (Last evaluated: Nov 17, 2016)

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:
RCV000169817.3

Allele description [Variation Report for NM_000314.8(PTEN):c.*10del]

NM_000314.8(PTEN):c.*10del

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.*10del
HGVS:
  • NC_000010.11:g.87965482del
  • NG_007466.2:g.107044del
  • NM_000314.8:c.*10delMANE SELECT
  • NM_001304717.5:c.*10del
  • NM_001304718.2:c.*10del
  • LRG_311t1:c.*10del
  • LRG_311:g.107044del
  • NC_000010.10:g.89725239del
  • NM_000314.4:c.*10delT
  • NM_000314.6:c.*10delT
Links:
dbSNP: rs756681683
NCBI 1000 Genomes Browser:
rs756681683
Molecular consequence:
  • NM_000314.8:c.*10del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001304717.5:c.*10del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001304718.2:c.*10del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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
SCV000222136GeneDxcriteria provided, single submitter
Benign
(Feb 24, 2014)
germlineclinical testing

Citation Link,

SCV000686267Color Health, Inccriteria provided, single submitter
Likely benign
(Nov 17, 2016)
germlineclinical testing

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

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000222136.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The variant is found in PTEN panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Color Health, Inc, SCV000686267.1

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

Last Updated: Nov 6, 2021

Support Center