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NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)

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Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
4 (Most recent: Nov 30, 2020)
Last evaluated:
Nov 28, 2018
Accession:
VCV000142261.4
Variation ID:
142261
Description:
single nucleotide variant
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NM_000314.8(PTEN):c.314G>A (p.Cys105Tyr)

Allele ID
151975
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87933073 (GRCh38) GRCh38 UCSC
10: 89692830 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_311:g.74635G>A
LRG_311t1:c.314G>A
NC_000010.10:g.89692830G>A
... more HGVS
Protein change
C105Y, C278Y
Other names
NM_000314.6(PTEN):c.314G>A
Canonical SPDI
NC_000010.11:87933072:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA000393
UniProtKB: P60484#VAR_008735
dbSNP: rs587782343
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 Nov 28, 2018 RCV000549505.2
Uncertain significance 1 criteria provided, single submitter May 24, 2018 RCV000131280.2
Uncertain significance 1 criteria provided, single submitter Apr 16, 2015 RCV000178758.1
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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
2003 2245

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 28, 2018)
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: SCV000930141.1
Submitted: (Jul 23, 2019)
Evidence details
Publications
PubMed (1)
Other databases
https://erepo.clinicalgenome.org…
Comment:
PTEN c.314G>A (p.Cys105Tyr) meets criteria to be classified as likely pathogenic for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria … (more)
Uncertain significance
(Jul 26, 2017)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000645568.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces cysteine with tyrosine at codon 105 of the PTEN protein (p.Cys105Tyr). The cysteine residue is highly conserved and there is a … (more)
Uncertain significance
(Apr 16, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000230909.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(May 24, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000186248.6
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
​The p.C105Y variant (also known as c.314G>A) is located in coding exon 5 of the PTEN gene. This alteration results from a G to 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
Analysis of protein-coding genetic variation in 60,706 humans. Lek M Nature 2016 PMID: 27535533
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. Mehenni H Human molecular genetics 2005 PMID: 15987703
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Marsh DJ Human molecular genetics 1999 PMID: 10400993
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PTEN - - - -
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/dce7b398-e447-420b-8da1-a51cbf6a8e69 - - - -

Text-mined citations for rs587782343...

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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 Nov 27, 2021