NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Idiopathic Pulmonary Fibrosis

Clinical significance:Pathogenic (Last evaluated: May 6, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000032385.1

Allele description [Variation Report for NM_198253.3(TERT):c.2594G>A (p.Arg865His)]

NM_198253.3(TERT):c.2594G>A (p.Arg865His)

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.2594G>A (p.Arg865His)
HGVS:
  • NC_000005.10:g.1266524C>T
  • NG_009265.1:g.33524G>A
  • NM_001193376.2:c.2594G>A
  • NM_198253.2:c.2594G>A
  • NM_198253.3:c.2594G>AMANE SELECT
  • NP_001180305.1:p.Arg865His
  • NP_937983.2:p.Arg865His
  • NP_937983.2:p.Arg865His
  • LRG_343t1:c.2594G>A
  • LRG_343:g.33524G>A
  • LRG_343p1:p.Arg865His
  • NC_000005.9:g.1266639C>T
  • NR_149162.2:n.2491G>A
  • NR_149163.2:n.2455G>A
  • O14746:p.Arg865His
Protein change:
R865H; ARG865HIS
Links:
UniProtKB: O14746#VAR_036868; OMIM: 187270.0008; dbSNP: rs121918666
NCBI 1000 Genomes Browser:
rs121918666
Molecular consequence:
  • NM_001193376.2:c.2594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.2:c.2594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.2594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.2:n.2491G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.2:n.2455G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Idiopathic Pulmonary Fibrosis (IPF)
Synonyms:
Fibrosing alveolitis, cryptogenic; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008345; MedGen: C1800706; Orphanet: 2032; Orphanet: 79126; OMIM: 178500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056041GeneReviewsno assertion criteria providedpathologic
(May 10, 2012)
not providedcuration

SCV000803358Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technologyno assertion criteria providedPathogenic
(May 6, 2018)
germlinecase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration
not providedgermlineyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From GeneReviews, SCV000056041.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology, SCV000803358.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 28, 2021

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