NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Aplastic anemia

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 27, 2017
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:: RCV000032365.16

Allele description [Variation Report for NM_198253.3(TERT):c.1234C>T (p.His412Tyr)]

NM_198253.3(TERT):c.1234C>T (p.His412Tyr)

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.1234C>T (p.His412Tyr)

HGVS:

NC_000005.10:g.1293652G>A
NG_009265.1:g.6396C>T
NM_001193376.3:c.1234C>T
NM_198253.3:c.1234C>TMANE SELECT
NP_001180305.1:p.His412Tyr
NP_937983.2:p.His412Tyr
NP_937983.2:p.His412Tyr
LRG_343t1:c.1234C>T
LRG_343:g.6396C>T
LRG_343p1:p.His412Tyr
NC_000005.9:g.1293767G>A
NM_198253.2:c.1234C>T
NR_149162.3:n.1313C>T
NR_149163.3:n.1313C>T
O14746:p.His412Tyr

Protein change:

H412Y; HIS412TYR

Links:

UniProtKB: O14746#VAR_025149; OMIM: 187270.0002; dbSNP: rs34094720

NCBI 1000 Genomes Browser:

rs34094720

Molecular consequence:

NM_001193376.3:c.1234C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198253.3:c.1234C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_149162.3:n.1313C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149163.3:n.1313C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Aplastic anemia
Identifiers:: MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056021	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (1) [See all records that cite this PMID]
SCV000452694	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 18931339, 15814878 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056021

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000452694

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

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

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
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Dyskeratosis Congenita and Related Telomere Biology Disorders.

Savage SA, Niewisch MR.

2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301779

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Du HY, Pumbo E, Ivanovich J, An P, Maziarz RT, Reiss UM, Chirnomas D, Shimamura A, Vlachos A, Lipton JM, Goyal RK, Goldman F, Wilson DB, Mason PJ, Bessler M.

Blood. 2009 Jan 8;113(2):309-16. doi: 10.1182/blood-2008-07-166421. Epub 2008 Oct 17.

PubMed [citation]

PMID:: 18931339
PMCID:: PMC2615648

See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000056021.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

From Illumina Laboratory Services, Illumina, SCV000452694.3

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Sep 29, 2024

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