NM_198253.2(TERT):c.1234C>T (p.His412Tyr) AND Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2008
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000013567.22

Allele description

NM_198253.2(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_198253.2(TERT):c.1234C>T (p.His412Tyr)

HGVS:

NC_000005.10:g.1293652G>A
NG_009265.1:g.6396C>T
NM_198253.2:c.1234C>T
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
O14746:p.His412Tyr

Protein change:

H412Y; HIS412TYR

Links:

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

GMAF:

0.0006(A), 34094720

NCBI 1000 Genomes Browser:

rs34094720

Allele Frequency:

0.0031, GO-ESP

Molecular consequence:

NM_198253.2:c.1234C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Synonyms:: BONE MARROW FAILURE, TELOMERE-RELATED, 1; PULMONARY FIBROSIS, TELOMERE-RELATED, 1
Identifiers:: MedGen: C3553617; Orphanet: 88; OMIM: 614742

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033814	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2008)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15814878, 18042801

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033814

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2008)

germline

literature only

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

Citations

PubMed

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS.

N Engl J Med. 2005 Apr 7;352(14):1413-24.

PubMed [citation]

PMID:: 15814878

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.

Du HY, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, Mason PJ, Bessler M.

Blood. 2008 Feb 1;111(3):1128-30. Epub 2007 Nov 27.

PubMed [citation]

PMID:: 18042801
PMCID:: PMC2214749

Details of each submission

From OMIM, SCV000033814.1

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

Description

In 2 unrelated patients with telomere-related bone marrow failure-1 (614742), Yamaguchi et al. (2005) identified heterozygosity for a his412-to-tyr missense mutation (H412Y) in exon 2 of the TERT gene. Telomere length in patient granulocytes was less than 10% of control values, and cell lysates carrying the mutation showed about 50% telomerase activity.

In a Scottish man with autosomal recessive dyskeratosis congenita-4 (see 613989), Du et al. (2008) identified compound heterozygosity for H412Y and P704S (187270.0014). Du et al. (2008) showed that the mutant H412Y protein had 36% residual activity.

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

Last Updated: Dec 26, 2017

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