Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000314.7(PTEN):c.599T>C (p.Phe200Ser)

Help
Interpretation:
Uncertain significance​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 23, 2020
Accession:
VCV000189414.7
Variation ID:
189414
Description:
single nucleotide variant
Help

NM_000314.7(PTEN):c.599T>C (p.Phe200Ser)

Allele ID
187368
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87952224 (GRCh38) GRCh38 UCSC
10: 89711981 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89711981T>C
NC_000010.11:g.87952224T>C
NM_000314.7:c.599T>C NP_000305.3:p.Phe200Ser missense
... more HGVS
Protein change
F200S, F373S, F3S
Other names
p.F200S:TTT>TCT
Canonical SPDI
NC_000010.11:87952223:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA000532
dbSNP: rs786204867
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 reviewed by expert panel Mar 23, 2020 RCV000802437.5
Likely pathogenic 1 criteria provided, single submitter Feb 2, 2018 RCV000169807.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PTEN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
1976 2216

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 23, 2020)
reviewed by expert panel
Method: curation
PTEN hamartoma tumor syndrome
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen PTEN Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV001335277.1
Submitted: (Mar 30, 2020)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
PTEN c.599T>C (p.Phe200Ser) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG … (more)
Likely pathogenic
(Feb 02, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000222124.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant that is likely pathogenic has been identified in the PTEN gene. The F200S variant has been reported in one individual referred for PTEN … (more)
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: unknown
Mendelics
Accession: SCV001138135.1
Submitted: (Oct 22, 2019)
Evidence details
Likely pathogenic
(Mar 31, 2020)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000942269.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces phenylalanine with serine at codon 200 of the PTEN protein (p.Phe200Ser). The phenylalanine residue is highly conserved and there is a … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. Pilarski R Journal of medical genetics 2011 PMID: 21659347
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/633ec420-0afb-4647-b05d-ed0a118f2469 - - - -

Text-mined citations for rs786204867...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 27, 2021