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NM_000314.8(PTEN):c.772_773del (p.Phe258fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 8, 2012
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:
RCV000129138.3

Allele description [Variation Report for NM_000314.8(PTEN):c.772_773del (p.Phe258fs)]

NM_000314.8(PTEN):c.772_773del (p.Phe258fs)

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.772_773del (p.Phe258fs)
HGVS:
  • NC_000010.11:g.87957990_87957991del
  • NG_007466.2:g.99552_99553del
  • NM_000314.8:c.772_773delMANE SELECT
  • NM_001304717.5:c.1291_1292del
  • NM_001304718.2:c.181_182del
  • NP_000305.3:p.Phe258fs
  • NP_001291646.4:p.Phe431fs
  • NP_001291647.1:p.Phe61fs
  • LRG_311t1:c.772_773del
  • LRG_311:g.99552_99553del
  • NC_000010.10:g.89717747_89717748del
  • NM_000314.4:c.772_773delTT
  • p.F258Pfs*39
Protein change:
F258fs
Links:
dbSNP: rs587781354
NCBI 1000 Genomes Browser:
rs587781354
Molecular consequence:
  • NM_000314.8:c.772_773del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304717.5:c.1291_1292del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001304718.2:c.181_182del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV000183859Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Nov 8, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000183859.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024