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NM_000314.7(PTEN):c.889G>C (p.Asp297His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Oct 27, 2017
Accession:
VCV000404172.1
Variation ID:
404172
Description:
single nucleotide variant
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NM_000314.7(PTEN):c.889G>C (p.Asp297His)

Allele ID
397520
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.31
Genomic location
10: 87960981 (GRCh38) GRCh38 UCSC
10: 89720738 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.89720738G>C
NC_000010.11:g.87960981G>C
NM_000314.7:c.889G>C NP_000305.3:p.Asp297His missense
... more HGVS
Protein change
D297H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16612914
dbSNP: rs370064195
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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 Oct 27, 2017 RCV000463600.2
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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
(Oct 27, 2017)
criteria provided, single submitter
Method: clinical testing
PTEN hamartoma tumor syndrome
Allele origin: germline
Invitae
Accession: SCV000541630.3
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces aspartic acid with histidine at codon 297 of the PTEN protein (p.Asp297His). The aspartic acid residue is weakly conserved and there ... (more)

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 Oct 27, 2019