NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 5, 2023
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:: RCV004702438.1

Allele description [Variation Report for NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)]

NM_198253.3(TERT):c.2105C>T (p.Pro702Leu)

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.2105C>T (p.Pro702Leu)

Other names:

p.Pro702Leu

HGVS:

NC_000005.10:g.1279316G>A
NG_009265.1:g.20732C>T
NM_001193376.3:c.2105C>T
NM_198253.3:c.2105C>TMANE SELECT
NP_001180305.1:p.Pro702Leu
NP_937983.2:p.Pro702Leu
NP_937983.2:p.Pro702Leu
LRG_343t1:c.2105C>T
LRG_343:g.20732C>T
LRG_343p1:p.Pro702Leu
NC_000005.9:g.1279431G>A
NM_198253.2:c.2105C>T
NR_149162.3:n.2184C>T
NR_149163.3:n.2184C>T

Protein change:

P702L

Links:

dbSNP: rs754809046

NCBI 1000 Genomes Browser:

rs754809046

Molecular consequence:

NM_001193376.3:c.2105C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198253.3:c.2105C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_149162.3:n.2184C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149163.3:n.2184C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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F-box protein 33 [Homo sapiens]
F-box protein 33 [Homo sapiens]
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005201965	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005201965

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jun 5, 2023)

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, SCV005201965.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); 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: 18635888, 27540018, 20502709)

#	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 3, 2024

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