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NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)

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Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 23, 2020
Accession:
VCV000428268.6
Variation ID:
428268
Description:
single nucleotide variant
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NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)

Allele ID
419755
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87960922 (GRCh38) GRCh38 UCSC
10: 89720679 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_311:g.102484C>G
LRG_311t1:c.830C>G
NC_000010.10:g.89720679C>G
... more HGVS
Protein change
T277R, T450R, T80R
Other names
-
Canonical SPDI
NC_000010.11:87960921:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA377485523
dbSNP: rs398123329
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 reviewed by expert panel Mar 23, 2020 RCV000536465.4
Likely pathogenic 1 criteria provided, single submitter Apr 15, 2016 RCV000491643.1
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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
1983 2224

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(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: SCV001335276.1
Submitted: (Mar 30, 2020)
Evidence details
Publications
PubMed (2)
Other databases
https://erepo.clinicalgenome.org…
Comment:
PTEN c.830C>G (p.Thr277Arg) meets criteria to be classified as likely pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria … (more)
Likely pathogenic
(Apr 15, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000580063.4
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (4)
Comment:
<span style="font-size:12px"><span style="font-family:arial,helvetica,sans-serif">The p.T277R variant (also known as c.830C>G), located in coding exon 8 of the PTEN gene, results from a C to G substitution … (more)
Pathogenic
(Jan 03, 2019)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000645627.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces threonine with arginine at codon 277 of the PTEN protein (p.Thr277Arg). The threonine residue is highly conserved and there is a … (more)

Functional evidence

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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

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Title Author Journal Year Link
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. Mighell TL American journal of human genetics 2018 PMID: 29706350
Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. Busa T European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2015 PMID: 25549896
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. Bubien V Journal of medical genetics 2013 PMID: 23335809
Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. Banneau G Breast cancer research : BCR 2010 PMID: 20712882
Cellular transformation by the MSP58 oncogene is inhibited by its physical interaction with the PTEN tumor suppressor. Okumura K Proceedings of the National Academy of Sciences of the United States of America 2005 PMID: 15659546
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/579af9bf-2984-45d2-8e0a-bd0802a7860b - - - -

Text-mined citations for rs398123329...

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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 Oct 24, 2021