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NM_000314.8(PTEN):c.801G>T (p.Lys267Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 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:
RCV002422336.3

Allele description [Variation Report for NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)]

NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)
HGVS:
  • NC_000010.11:g.87958019G>T
  • NG_007466.2:g.99581G>T
  • NM_000314.8:c.801G>TMANE SELECT
  • NM_001304717.5:c.1320G>T
  • NM_001304718.2:c.210G>T
  • NP_000305.3:p.Lys267Asn
  • NP_001291646.4:p.Lys440Asn
  • NP_001291647.1:p.Lys70Asn
  • LRG_311t1:c.801G>T
  • LRG_311:g.99581G>T
  • NC_000010.10:g.89717776G>T
  • NM_000314.4:c.801G>T
Protein change:
K267N
Links:
dbSNP: rs1554825266
NCBI 1000 Genomes Browser:
rs1554825266
Molecular consequence:
  • NM_000314.8:c.801G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304717.5:c.1320G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304718.2:c.210G>T - missense variant - [Sequence Ontology: SO:0001583]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002679832Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jun 24, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Ciaccio C, Saletti V, D'Arrigo S, Esposito S, Alfei E, Moroni I, Tonduti D, Chiapparini L, Pantaleoni C, Milani D.

Eur J Med Genet. 2019 Dec;62(12):103596. doi: 10.1016/j.ejmg.2018.12.001. Epub 2018 Dec 4.

PubMed [citation]
PMID:
30528446

Details of each submission

From Ambry Genetics, SCV002679832.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.801G>T pathogenic mutation (also known as p.K267N), located in coding exon 7 of the PTEN gene, results from a G to T substitution at nucleotide position 801. The amino acid change results in lysine to asparagine at codon 267, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 7, which makes it likely to have some effect on normal mRNA splicing. This alteration has been reported as de novo in a two-year-old male diagnosed with macrocephaly, vascular malformations, enlarged perivascular spaces and developmental delay (Ciaccio C et al. Eur J Med Genet, 2019 Dec;62:103596). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 20, 2024