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NM_000314.8(PTEN):c.795_801+1del AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 31, 2019
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:
RCV001026989.3

Allele description [Variation Report for NM_000314.8(PTEN):c.795_801+1del]

NM_000314.8(PTEN):c.795_801+1del

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.795_801+1del
HGVS:
  • NC_000010.11:g.87958013_87958020del
  • NG_007466.2:g.99575_99582del
  • NM_000314.8:c.795_801+1delMANE SELECT
  • NM_001304717.5:c.1315_1321+1del
  • NM_001304718.2:c.204_210+1del
  • LRG_311t1:c.795_801+1del
  • LRG_311:g.99575_99582del
  • NC_000010.10:g.89717770_89717777del
  • NM_000314.4:c.795_801+1delAAAAAAGG
Links:
dbSNP: rs1589663644
NCBI 1000 Genomes Browser:
rs1589663644
Molecular consequence:
  • NM_000314.8:c.795_801+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001304717.5:c.1315_1321+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001304718.2:c.204_210+1del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001189475Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 31, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001189475.4

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

Description

The c.795_801+1delAAAAAAGG pathogenic mutation results from the deletion of 8 nucleotides from positions c.795 to c.801+1 between coding exon 7 and intron 7 of the PTEN gene. This alteration was confirmed to be a de novo occurrence in a proband with features of PTEN hamartoma tumor syndrome (PHTS) (Ambry internal data). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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

Last Updated: May 1, 2024