NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 23, 2019
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:: RCV001508166.12

Allele description [Variation Report for NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)]

NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)

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.2011C>T (p.Arg671Trp)

HGVS:

NC_000005.10:g.1279410G>A
NG_009265.1:g.20638C>T
NM_001193376.3:c.2011C>T
NM_198253.3:c.2011C>TMANE SELECT
NP_001180305.1:p.Arg671Trp
NP_937983.2:p.Arg671Trp
NP_937983.2:p.Arg671Trp
LRG_343t1:c.2011C>T
LRG_343:g.20638C>T
LRG_343p1:p.Arg671Trp
NC_000005.9:g.1279525G>A
NM_198253.2:c.2011C>T
NM_198253.3:c.2011C>T
NR_149162.3:n.2090C>T
NR_149163.3:n.2090C>T
p.Arg671Trp

Protein change:

R671W; ARG671TRP

Links:

OMIM: 187270.0024; dbSNP: rs1060503011

NCBI 1000 Genomes Browser:

rs1060503011

Molecular consequence:

NM_001193376.3:c.2011C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198253.3:c.2011C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_149162.3:n.2090C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149163.3:n.2090C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV001714133	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 23, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20502709, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001714133

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 23, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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	not provided	not provided	clinical testing

Citations

PubMed

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Diaz de Leon A, Cronkhite JT, Katzenstein AL, Godwin JD, Raghu G, Glazer CS, Rosenblatt RL, Girod CE, Garrity ER, Xing C, Garcia CK.

PLoS One. 2010 May 19;5(5):e10680. doi: 10.1371/journal.pone.0010680.

PubMed [citation]

PMID:: 20502709
PMCID:: PMC2873288

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714133.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

PS3_Supporting, PS4_Moderate, PM2, PP2

#	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		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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