NM_198253.3(TERT):c.1323G>T (p.Glu441Asp) AND multiple conditions

delete

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 2022
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:: RCV002386401.8

Allele description

NM_198253.3(TERT):c.1323G>T (p.Glu441Asp)

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.1323G>T (p.Glu441Asp)

HGVS:

NC_000005.10:g.1293563C>A
NG_009265.1:g.6485G>T
NM_001193376.3:c.1323G>T
NM_198253.3:c.1323G>TMANE SELECT
NP_001180305.1:p.Glu441Asp
NP_937983.2:p.Glu441Asp
NP_937983.2:p.Glu441Asp
LRG_343t1:c.1323G>T
LRG_343:g.6485G>T
LRG_343p1:p.Glu441Asp
NC_000005.9:g.1293678C>A
NM_198253.2:c.1323G>T
NR_149162.3:n.1402G>T
NR_149163.3:n.1402G>T

Protein change:

E441D

Links:

dbSNP: rs1213914911

NCBI 1000 Genomes Browser:

rs1213914911

Molecular consequence:

NM_001193376.3:c.1323G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198253.3:c.1323G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_149162.3:n.1402G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149163.3:n.1402G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Dyskeratosis congenita
Identifiers:: MONDO: MONDO:0015780; MedGen: C0265965; OMIM: PS127550

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002690463	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Jan 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002690463

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Jan 12, 2022)

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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002690463.1

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

Description

The p.E441D variant (also known as c.1323G>T), located in coding exon 2 of the TERT gene, results from a G to T substitution at nucleotide position 1323. The glutamic acid at codon 441 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jun 2, 2024

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