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NM_000314.7(PTEN):c.209+9_209+10delinsCC

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 14, 2019)
Last evaluated:
Jan 7, 2019
Accession:
VCV000412801.2
Variation ID:
412801
Description:
2bp indel
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NM_000314.7(PTEN):c.209+9_209+10delinsCC

Allele ID
397933
Variant type
Indel
Variant length
2 bp
Cytogenetic location
10q23.31
Genomic location
10: 87925566-87925567 (GRCh38) GRCh38 UCSC
10: 89685323-89685324 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89685323_89685324delinsCC
NC_000010.11:g.87925566_87925567delinsCC
NM_000314.7:c.209+9_209+10delinsCC
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16613156
dbSNP: rs1060503841
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 7, 2019 RCV000464638.4
Likely benign 1 criteria provided, single submitter Mar 25, 2016 RCV000482827.1
Likely benign 1 criteria provided, single submitter Jun 6, 2017 RCV000580574.1
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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
1540 1682

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 06, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000686282.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Mar 25, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000569776.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Likely benign
(Jan 07, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000554532.4
Submitted: (Mar 14, 2019)
Evidence details

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 Dec 17, 2019