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NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 22, 2020)
Last evaluated:
May 18, 2020
Accession:
VCV000916675.1
Variation ID:
916675
Description:
single nucleotide variant
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NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)

Allele ID
905008
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p15.33
Genomic location
5: 1280217 (GRCh38) GRCh38 UCSC
5: 1280332 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_343:g.19831C>T
LRG_343t1:c.1891C>T
NC_000005.10:g.1280217G>A
... more HGVS
Protein change
R631W
Other names
-
Canonical SPDI
NC_000005.10:1280216:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 18, 2020 RCV001172450.1
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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
1348 1598

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 18, 2020)
criteria provided, single submitter
Method: clinical testing
Acute myeloid leukemia
(Autosomal dominant inheritance)
Allele origin: germline
Godley laboratory, The University of Chicago
Accession: SCV001251974.1
Submitted: (May 22, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This heterozygous variant was found in germline in a 75-year old patient with AML with myelodysplasia-associated changes. The following ACMG/AMP criteria were applied: PS1, PM1, … (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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Title Author Journal Year Link
Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. Pereboeva L PloS one 2016 PMID: 26859482
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. Basel-Vanagaite L Haematologica 2008 PMID: 18460650

Record last updated Oct 24, 2021