NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 11, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001797047.9

Allele description [Variation Report for NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)]

NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)

Gene:

TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.33

Genomic location:

Preferred name:

NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)

HGVS:

NC_000005.10:g.1271156G>A
NG_009265.1:g.28892C>T
NM_001193376.3:c.2431C>T
NM_198253.3:c.2431C>TMANE SELECT
NP_001180305.1:p.Arg811Cys
NP_937983.2:p.Arg811Cys
NP_937983.2:p.Arg811Cys
LRG_343t1:c.2431C>T
LRG_343:g.28892C>T
LRG_343p1:p.Arg811Cys
NC_000005.9:g.1271271G>A
NM_198253.2:c.2431C>T
O14746:p.Arg811Cys

Protein change:

R811C; ARG811CYS

Links:

UniProtKB: O14746#VAR_062540; OMIM: 187270.0012; dbSNP: rs199422301

NCBI 1000 Genomes Browser:

rs199422301

Molecular consequence:

NM_001193376.3:c.2431C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198253.3:c.2431C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002038816	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 11, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002038816

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 11, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002038816.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Published functional studies demonstrate a damaging effect as this variant was defective in binding to telomeres, resulting in uncapping and higher apoptosis, and showing a 50% reduction in telomerase activity in transfected cells (Chu et al., 2016; Marrone et al., 2007).; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17785587, 26887940, 23538340, 23716176, 29691679, 26581521, 20301779, 28192371)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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