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NM_000314.7(PTEN):c.42G>A (p.Arg14=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 15, 2021)
Last evaluated:
Apr 24, 2020
Accession:
VCV000420491.6
Variation ID:
420491
Description:
single nucleotide variant
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NM_000314.7(PTEN):c.42G>A (p.Arg14=)

Allele ID
407978
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87864511 (GRCh38) GRCh38 UCSC
10: 89624268 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89624268G>A
NC_000010.11:g.87864511G>A
NM_000314.7:c.42G>A NP_000305.3:p.Arg14= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:87864510:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16619040
dbSNP: rs1064794513
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 16, 2018 RCV000980463.2
Likely benign 1 criteria provided, single submitter Apr 20, 2018 RCV001022242.1
Likely benign 1 criteria provided, single submitter Apr 24, 2020 RCV001443644.1
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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
1980 2221

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 16, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001128417.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Apr 20, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001183956.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Apr 24, 2020)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV001646628.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Sep 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000569346.4
Submitted: (Jul 15, 2021)
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 rs1064794513...

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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 Aug 17, 2021