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NM_198253.3(TERT):c.1590G>C (p.Pro530=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 5, 2020
Accession:
VCV000667339.3
Variation ID:
667339
Description:
single nucleotide variant
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NM_198253.3(TERT):c.1590G>C (p.Pro530=)

Allele ID
654364
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.33
Genomic location
5: 1282608 (GRCh38) GRCh38 UCSC
5: 1282723 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.1282608C>G
NC_000005.9:g.1282723C>G
NM_198253.3:c.1590G>C MANE Select NP_937983.2:p.Pro530= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:1282607:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1396912668
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 Aug 13, 2018 RCV000826056.1
Likely benign 1 criteria provided, single submitter Mar 20, 2018 RCV000871987.1
Likely benign 1 criteria provided, single submitter Mar 5, 2020 RCV001455910.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TERT Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1328 1575

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 13, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000967550.1
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Variant classified as Uncertain Significance - Favor Benign. The p.Pro530Pro var iant in TERT has not been previously reported in individuals with short telomere syndromes … (more)
Likely benign
(Mar 20, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001013732.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Mar 05, 2020)
criteria provided, single submitter
Method: clinical testing
Dyskeratosis congenita, autosomal dominant, 2
Idiopathic Pulmonary Fibrosis
Allele origin: germline
Invitae
Accession: SCV001659680.1
Submitted: (Jan 07, 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 rs1396912668...

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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 Jul 07, 2021