Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000314.8(PTEN):c.*10del

Help
Interpretation:
Uncertain significance​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
5 (Most recent: Oct 22, 2021)
Last evaluated:
Apr 6, 2018
Accession:
VCV000189424.3
Variation ID:
189424
Description:
1bp deletion
Help

NM_000314.8(PTEN):c.*10del

Allele ID
187390
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87965474 (GRCh38) GRCh38 UCSC
10: 89725231 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89725239del
NC_000010.11:g.87965482del
NG_007466.2:g.107044del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:87965473:TTTTTTTTT:TTTTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA000290
dbSNP: rs756681683
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 reviewed by expert panel Apr 6, 2018 RCV000735266.2
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 17, 2016 RCV000169817.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2016 RCV000411453.1
Uncertain significance 1 criteria provided, single submitter Sep 4, 2021 RCV001731500.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 06, 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: SCV000863479.2
Submitted: (Dec 03, 2018)
Evidence details
Comment:
PTEN c.*10delT (NC_000010.10:g.89725239delT) is currently classified as a variant of uncertain significance for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG … (more)
Benign
(Feb 24, 2014)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
GeneDx
Accession: SCV000222136.2
Submitted: (Apr 07, 2015)
Evidence details
Comment:
The variant is found in PTEN panel(s).
Uncertain significance
(Jan 13, 2016)
criteria provided, single submitter
Method: clinical testing
Cowden syndrome 1
Allele origin: unknown
Counsyl
Accession: SCV000488168.1
Submitted: (Nov 23, 2016)
Evidence details
Likely benign
(Nov 17, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000686267.1
Submitted: (Oct 26, 2017)
Evidence details
Uncertain significance
(Sep 04, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001983451.1
Submitted: (Oct 22, 2021)
Evidence details
Comment:
Variant summary: PTEN c.*10delT is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of … (more)

Functional evidence

Help
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

Help
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 rs756681683...

Help
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