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NM_000314.8(PTEN):c.786_787insCT (p.Lys263fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 24, 2022
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:
RCV002412234.2

Allele description [Variation Report for NM_000314.8(PTEN):c.786_787insCT (p.Lys263fs)]

NM_000314.8(PTEN):c.786_787insCT (p.Lys263fs)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.786_787insCT (p.Lys263fs)
HGVS:
  • NC_000010.11:g.87958004_87958005insCT
  • NG_007466.2:g.99566_99567insCT
  • NM_000314.8:c.786_787insCTMANE SELECT
  • NM_001304717.5:c.1305_1306insCT
  • NM_001304718.2:c.195_196insCT
  • NP_000305.3:p.Lys263Leufs
  • NP_000305.3:p.Lys263fs
  • NP_001291646.4:p.Lys436fs
  • NP_001291647.1:p.Lys66fs
  • LRG_311t1:c.786_787insCT
  • LRG_311:g.99566_99567insCT
  • LRG_311p1:p.Lys263Leufs
  • NC_000010.10:g.89717761_89717762insCT
  • NM_000314.4:c.786_787insCT
Protein change:
K263fs
Molecular consequence:
  • NM_000314.8:c.786_787insCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304717.5:c.1305_1306insCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304718.2:c.195_196insCT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002670077Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 24, 2022) 		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, SCV002670077.2

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

Description

The c.786_787insCT pathogenic mutation, located in coding exon 7 of the PTEN gene, results from an insertion of two nucleotides at position 786, causing a translational frameshift with a predicted alternate stop codon (p.K263Lfs*4). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024