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NM_000314.7(PTEN):c.1096A>G (p.Thr366Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Mar 20, 2018
Accession:
VCV000576100.1
Variation ID:
576100
Description:
single nucleotide variant
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NM_000314.7(PTEN):c.1096A>G (p.Thr366Ala)

Allele ID
569864
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87965356 (GRCh38) GRCh38 UCSC
10: 89725113 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89725113A>G
NC_000010.11:g.87965356A>G
NM_000314.7:c.1096A>G NP_000305.3:p.Thr366Ala missense
... more HGVS
Protein change
T366A
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1564570409
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 20, 2018 RCV000698513.1
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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
1540 1682

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 20, 2018)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000827181.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces threonine with alanine at codon 366 of the PTEN protein (p.Thr366Ala). The threonine residue is moderately conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
PTEN regulation by the Akt/GSK-3β axis during RANKL signaling. Jang HD Bone 2013 PMID: 23419777
PTEN is destabilized by phosphorylation on Thr366. Maccario H The Biochemical journal 2007 PMID: 17444818
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

Record last updated Oct 27, 2019