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NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) AND Interstitial lung disease 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 19, 2015
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:
RCV000201662.8

Allele description [Variation Report for NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)]

NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)

Genes:
RTEL1-TNFRSF6B:RTEL1-TNFRSF6B readthrough (NMD candidate) [Gene - HGNC]
RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
Other names:
uc021wge.1:c.3791G>A; NM_001283009.1:p.Arg1264His; p.Arg1010Ter
HGVS:
  • NC_000020.11:g.63695619G>A
  • NG_033901.1:g.42810G>A
  • NG_046961.1:g.3969G>A
  • NM_001283009.2:c.3791G>AMANE SELECT
  • NM_001283010.1:c.2983+139G>A
  • NM_016434.4:c.3652+139G>A
  • NM_032957.5:c.3724+139G>A
  • NP_001269938.1:p.Arg1264His
  • NP_001269938.1:p.Arg1264His
  • LRG_1149t1:c.3724+139G>A
  • LRG_1149t2:c.3791G>A
  • LRG_1149t3:c.3652+139G>A
  • LRG_1149:g.42810G>A
  • LRG_1149p2:p.Arg1264His
  • NC_000020.10:g.62326972G>A
  • NM_001283009.1:c.3791G>A
  • NM_001283009.2:c.3791G>A
  • NM_032957.4:c.3724+139G>A
  • NM_032957.5:c.3724+139G>A
  • NR_037882.1:n.4618G>A
  • p.Arg1264His
Protein change:
R1264H; ARG1264HIS
Links:
Counsyl: 143983; OMIM: 608833.0002; dbSNP: rs201540674
NCBI 1000 Genomes Browser:
rs201540674
Molecular consequence:
  • NM_001283010.1:c.2983+139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016434.4:c.3652+139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_032957.5:c.3724+139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001283009.2:c.3791G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037882.1:n.4618G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Interstitial lung disease 2 (ILD2)
Synonyms:
Fibrosing alveolitis, cryptogenic; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia
Identifiers:
MONDO: MONDO:0800029; MedGen: C5561926; Orphanet: 2032; Orphanet: 79126; OMIM: 178500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256245University of Washington Center for Mendelian Genomics, University of Washington
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(May 19, 2015) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Rare variants in RTEL1 are associated with familial interstitial pneumonia.

Cogan JD, Kropski JA, Zhao M, Mitchell DB, Rives L, Markin C, Garnett ET, Montgomery KH, Mason WR, McKean DF, Powers J, Murphy E, Olson LM, Choi L, Cheng DS, Blue EM, Young LR, Lancaster LH, Steele MP, Brown KK, Schwarz MI, Fingerlin TE, et al.

Am J Respir Crit Care Med. 2015 Mar 15;191(6):646-55. doi: 10.1164/rccm.201408-1510OC.

PubMed [citation]
PMID:
25607374
PMCID:
PMC4384777

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000256245.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024