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NM_000314.7(PTEN):c.457G>A (p.Asp153Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2017)
Last evaluated:
Nov 17, 2016
Accession:
VCV000404159.1
Variation ID:
404159
Description:
single nucleotide variant
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NM_000314.7(PTEN):c.457G>A (p.Asp153Asn)

Allele ID
398053
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87933216 (GRCh38) GRCh38 UCSC
10: 89692973 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.11:g.87933216G>A
NC_000010.10:g.89692973G>A
NM_001304717.5:c.976G>A NP_001291646.4:p.Asp326Asn missense
... more HGVS
Protein change
D153N, D326N
Other names
-
Canonical SPDI
NC_000010.11:87933215:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16613244
dbSNP: rs9651492
Varsome
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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 Nov 17, 2016 RCV000462562.1
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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
1951 2188

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 17, 2016)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000541610.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces aspartic acid with asparagine at codon 153 of the PTEN protein (p.Asp153Asn). The aspartic acid residue is highly conserved and there … (more)

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 rs9651492...

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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 Apr 08, 2021