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NM_000314.7(PTEN):c.329A>G (p.Gln110Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 6, 2018)
Last evaluated:
Oct 2, 2018
Accession:
VCV000567265.2
Variation ID:
567265
Description:
single nucleotide variant
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NM_000314.7(PTEN):c.329A>G (p.Gln110Arg)

Allele ID
566564
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87933088 (GRCh38) GRCh38 UCSC
10: 89692845 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89692845A>G
NC_000010.11:g.87933088A>G
NM_000314.7:c.329A>G NP_000305.3:p.Gln110Arg missense
... more HGVS
Protein change
Q110R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1564830013
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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 Jun 7, 2018 RCV000687289.1
Uncertain significance 1 criteria provided, single submitter Oct 2, 2018 RCV000772376.1
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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
Uncertain significance
(Jun 07, 2018)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000814848.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glutamine with arginine at codon 110 of the PTEN protein (p.Gln110Arg). The glutamine residue is highly conserved and there is a ... (more)
Uncertain significance
(Oct 02, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000905554.1
Submitted: (Nov 06, 2018)
Evidence details

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Oct 27, 2019