NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 15, 2015
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:: RCV003329238.3

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; Genetic Testing Registry (GTR): GTR000575390; 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:: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Synonyms:: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
Identifiers:: MONDO: MONDO:0014613; MedGen: C4225346; Orphanet: 2032; OMIM: 616373

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003923343	OMIM	no assertion criteria provided	Pathogenic (Mar 15, 2015)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 23453664, 25607374

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003923343

OMIM

no assertion criteria provided

Pathogenic
(Mar 15, 2015)

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

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I.

Am J Hum Genet. 2013 Mar 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28.

PubMed [citation]

PMID:: 23453664
PMCID:: PMC3591859

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 OMIM, SCV003923343.2

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

Description

Dyskeratosis Congenita, Autosomal Recessive 5

For discussion of the arg1264-to-his (R1264H) mutation in the RTEL1 gene that was found in compound heterozygous state in a patient with autosomal recessive dyskeratosis congenita-5 (DKCB5; 615190) by Walne et al. (2013), see 608833.0001.

Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3

In affected members of a family (family E) with telomere-related pulmonary fibrosis without bone marrow failure (PFBMFT3; 616373), Cogan et al. (2015) identified a heterozygous c.3791G-A transition in the RTEL1 gene, resulting in an arg1264-to-his (R1264H) substitution in the 1,300-residue isoform.

#	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: Sep 8, 2024

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