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NM_001304718.2(PTEN):c.-667_-666del

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Aug 16, 2018
Accession:
VCV000450810.2
Variation ID:
450810
Description:
2bp deletion
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NM_001304718.2(PTEN):c.-667_-666del

Allele ID
444671
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
10q23.31
Genomic location
10: 87864506-87864507 (GRCh38) GRCh38 UCSC
10: 89624263-89624264 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89624265_89624266del
NC_000010.11:g.87864508_87864509del
NM_000314.7:c.39_40del NP_000305.3:p.Arg14fs frameshift
... more HGVS
Protein change
R187fs, R14fs
Other names
-
Canonical SPDI
NC_000010.11:87864505:AAAA:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658657994
dbSNP: rs587776671
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Aug 16, 2018 RCV000521459.5
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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
1981 2222

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000619429.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.39_40delAA variant in the PTEN gene has not, to our knowledge, been published in the literature as a germline variant; however, it has been … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000692001.1
Submitted: (Oct 31, 2017)
Evidence details

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

Text-mined citations for rs587776671...

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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 May 19, 2021