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NM_000314.8(PTEN):c.420dup (p.His141fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 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:
RCV001022058.3

Allele description [Variation Report for NM_000314.8(PTEN):c.420dup (p.His141fs)]

NM_000314.8(PTEN):c.420dup (p.His141fs)

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.420dup (p.His141fs)
HGVS:
  • NC_000010.11:g.87933179dup
  • NG_007466.2:g.74741dup
  • NM_000314.8:c.420dupMANE SELECT
  • NM_001304717.5:c.939dup
  • NM_001304718.2:c.-331dup
  • NP_000305.3:p.His141fs
  • NP_001291646.4:p.His314fs
  • LRG_311t1:c.420dup
  • LRG_311:g.74741dup
  • NC_000010.10:g.89692935_89692936insA
  • NC_000010.10:g.89692936dup
  • NM_000314.4:c.420dupA
  • NM_000314.6:c.420dupA
  • p.His141Thrfs*39
Protein change:
H141fs
Links:
dbSNP: rs1085308050
NCBI 1000 Genomes Browser:
rs1085308050
Molecular consequence:
  • NM_001304718.2:c.-331dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000314.8:c.420dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304717.5:c.939dup - 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
SCV001183749Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 19, 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, SCV001183749.4

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

Description

The c.420dupA pathogenic mutation, located in coding exon 5 of the PTEN gene, results from a duplication of A at nucleotide position 420, causing a translational frameshift with a predicted alternate stop codon (p.H141Tfs*39). This mutation has been detected in multiple individuals with a clinical diagnosis of Cowden Syndrome (Hansen-Kiss et. al. J. Med. Genet. 2017 07;54(7):471-478; Pilarski et. al. J. Med. Genet. 2011 Aug;48(8):505-12; Holbert et. al. Eur. J. Hum. Genet. 2014 Feb;22(2):273-6). In addition to the clinical data presented in the literature, 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