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NM_198253.2(TERT):c.2162C>G (p.Pro721Arg)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 8, 2013)
Last evaluated:
May 10, 2012
Accession:
VCV000039110.1
Variation ID:
39110
Description:
single nucleotide variant
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NM_198253.2(TERT):c.2162C>G (p.Pro721Arg)

Allele ID
47716
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.33
Genomic location
5: 1278765 (GRCh38) GRCh38 UCSC
5: 1278880 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.1278880G>C
NC_000005.10:g.1278765G>C
NM_198253.2:c.2162C>G NP_937983.2:p.Pro721Arg missense
... more HGVS
Protein change
P721R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: O14746#VAR_062538
dbSNP: rs199422299
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided May 10, 2012 RCV000032377.1
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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
488 644

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathologic
(May 10, 2012)
no assertion criteria provided
Method: curation
Dyskeratosis Congenita
Allele origin: not provided
GeneReviews
Accession: SCV000056033.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

Citations for this variant

Title Author Journal Year Link
Dyskeratosis Congenita Savage SA - 2016 PMID: 20301779

Record last updated Jun 20, 2019