NM_198253.3(TERT):c.2071C>A (p.Arg691Ser) AND Dyskeratosis congenita

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 11, 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:: RCV004557439.1

Allele description [Variation Report for NM_198253.3(TERT):c.2071C>A (p.Arg691Ser)]

NM_198253.3(TERT):c.2071C>A (p.Arg691Ser)

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.2071C>A (p.Arg691Ser)

HGVS:

NC_000005.10:g.1279350G>T
NG_009265.1:g.20698C>A
NM_001193376.3:c.2071C>A
NM_198253.3:c.2071C>AMANE SELECT
NP_001180305.1:p.Arg691Ser
NP_937983.2:p.Arg691Ser
LRG_343t1:c.2071C>A
LRG_343:g.20698C>A
NC_000005.9:g.1279465G>T
NM_198253.2:c.2071C>A
NR_149162.3:n.2150C>A
NR_149163.3:n.2150C>A

Protein change:

R691S

Links:

dbSNP: rs866767063

NCBI 1000 Genomes Browser:

rs866767063

Molecular consequence:

NM_001193376.3:c.2071C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198253.3:c.2071C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_149162.3:n.2150C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149163.3:n.2150C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005049103	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005049103

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 11, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV005049103.1

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

Description

The p.R691S variant (also known as c.2071C>A), located in coding exon 5 of the TERT gene, results from a C to A substitution at nucleotide position 2071. The arginine at codon 691 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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