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NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 7, 2005
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:
RCV000013569.25

Allele description [Variation Report for NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)]

NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)

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.2315A>G (p.Tyr772Cys)
HGVS:
  • NC_000005.10:g.1272252T>C
  • NG_009265.1:g.27796A>G
  • NM_001193376.3:c.2315A>G
  • NM_198253.3:c.2315A>GMANE SELECT
  • NP_001180305.1:p.Tyr772Cys
  • NP_937983.2:p.Tyr772Cys
  • NP_937983.2:p.Tyr772Cys
  • LRG_343t1:c.2315A>G
  • LRG_343:g.27796A>G
  • LRG_343p1:p.Tyr772Cys
  • NC_000005.9:g.1272367T>C
  • NM_198253.2:c.2315A>G
  • O14746:p.Tyr772Cys
Protein change:
Y772C; TYR772CYS
Links:
UniProtKB: O14746#VAR_036867; OMIM: 187270.0004; dbSNP: rs121918663
NCBI 1000 Genomes Browser:
rs121918663
Molecular consequence:
  • NM_001193376.3:c.2315A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.2315A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Synonyms:
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1
Identifiers:
MONDO: MONDO:0013878; MedGen: C3553617; Orphanet: 88; OMIM: 614742

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033816OMIM
no assertion criteria provided
Pathogenic
(Apr 7, 2005) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

Details of each submission

From OMIM, SCV000033816.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with telomere-related bone marrow failure (PFBMFT1; 614742), Yamaguchi et al. (2005) identified heterozygosity for a tyr772-to-cys missense mutation (Y772C) in exon 7 of the TERT gene. Telomere length in patient granulocytes was less than 1% of control values, and cell lysates carrying the mutation showed less than 1% telomerase activity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023