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NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)

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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 22, 2019
Accession:
VCV000404160.5
Variation ID:
404160
Description:
single nucleotide variant
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NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)

Allele ID
398044
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87894025 (GRCh38) GRCh38 UCSC
10: 89653782 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_311:g.35587A>G
LRG_311t1:c.80A>G
NM_000314.7(PTEN):c.80A>G
... more HGVS
Protein change
Y27C, Y200C
Other names
-
Canonical SPDI
NC_000010.11:87894024:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16613238
dbSNP: rs886041877
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 22, 2019 RCV000471888.2
Likely pathogenic 1 criteria provided, single submitter Apr 13, 2017 RCV000622559.1
Likely pathogenic 1 criteria provided, single submitter May 16, 2019 RCV001027175.1

Clinical features observed in individuals with this variant

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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
(Nov 22, 2019)
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: SCV001244234.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (2)
Other databases
https://erepo.clinicalgenome.org…
Comment:
PTEN c.80A>G (p.Tyr27Cys) 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
(Nov 12, 2016)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000541611.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces tyrosine with cysteine at codon 27 of the PTEN protein (p.Tyr27Cys). The tyrosine residue is highly conserved and there is a … (more)
Likely pathogenic
(Apr 13, 2017)
criteria provided, single submitter
Method: clinical testing
Inborn genetic diseases
Allele origin: germline
Ambry Genetics
Accession: SCV000742253.2
Submitted: (Oct 09, 2020)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(May 16, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001189689.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.Y27C variant (also known as c.80A>G) is located in coding exon 2 of the PTEN gene. The tyrosine at codon 27 is replaced by … (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
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Vanderver A American journal of medical genetics. Part A 2014 PMID: 24375884
Genetic alterations of PTEN in human melanoma. Aguissa-Touré AH Cellular and molecular life sciences : CMLS 2012 PMID: 22076652
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/d78c91f0-0265-4f61-9c40-6a7bc3309acb - - - -

Text-mined citations for rs886041877...

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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