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NM_000314.7(PTEN):c.533A>G (p.Tyr178Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Apr 14, 2016
Accession:
VCV000189413.1
Variation ID:
189413
Description:
single nucleotide variant
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NM_000314.7(PTEN):c.533A>G (p.Tyr178Cys)

Allele ID
187364
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87952158 (GRCh38) GRCh38 UCSC
10: 89711915 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89711915A>G
NC_000010.11:g.87952158A>G
NM_000314.7:c.533A>G NP_000305.3:p.Tyr178Cys missense
... more HGVS
Protein change
Y178C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA000507
dbSNP: rs786204866
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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 Apr 14, 2016 RCV000457017.1
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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
1541 1683

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 14, 2016)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000541612.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces tyrosine with cysteine at codon 178 of the PTEN protein (p.Tyr178Cys). The tyrosine residue is highly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019