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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

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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

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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, 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