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NM_000314.8(PTEN):c.738_739dup (p.Leu247fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 7, 2018
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:
RCV001026352.3

Allele description [Variation Report for NM_000314.8(PTEN):c.738_739dup (p.Leu247fs)]

NM_000314.8(PTEN):c.738_739dup (p.Leu247fs)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.738_739dup (p.Leu247fs)
HGVS:
  • NC_000010.11:g.87957956_87957957dup
  • NG_007466.2:g.99518_99519dup
  • NM_000314.8:c.738_739dupMANE SELECT
  • NM_001304717.5:c.1257_1258dup
  • NM_001304718.2:c.147_148dup
  • NP_000305.3:p.Leu247fs
  • NP_001291646.4:p.Leu420fs
  • NP_001291647.1:p.Leu50fs
  • LRG_311t1:c.738_739dup
  • LRG_311:g.99518_99519dup
  • NC_000010.10:g.89717712_89717713insGT
  • NC_000010.10:g.89717713_89717714dup
  • NM_000314.4:c.738_739dupGT
Protein change:
L247fs
Links:
dbSNP: rs1589663442
NCBI 1000 Genomes Browser:
rs1589663442
Molecular consequence:
  • NM_000314.8:c.738_739dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304717.5:c.1257_1258dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304718.2:c.147_148dup - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001188715Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Mar 7, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001188715.4

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

Description

The c.738_739dupGT pathogenic mutation, located in coding exon 7 of the PTEN gene, results from a duplication of GT at nucleotide position 738, causing a translational frameshift with a predicted alternate stop codon (p.L247Cfs*10). 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: Sep 29, 2024