NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1

Clinical significance:Pathogenic (Last evaluated: Nov 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000677344.1

Allele description [Variation Report for NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)]

NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)

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.1892G>A (p.Arg631Gln)
HGVS:
  • NC_000005.10:g.1280216C>T
  • NG_009265.1:g.19832G>A
  • NM_001193376.2:c.1892G>A
  • NM_198253.2:c.1892G>A
  • NM_198253.3:c.1892G>AMANE SELECT
  • NP_001180305.1:p.Arg631Gln
  • NP_937983.2:p.Arg631Gln
  • NP_937983.2:p.Arg631Gln
  • LRG_343t1:c.1892G>A
  • LRG_343:g.19832G>A
  • LRG_343p1:p.Arg631Gln
  • NC_000005.9:g.1280331C>T
  • NR_149162.2:n.1971G>A
  • NR_149163.2:n.1971G>A
  • O14746:p.Arg631Gln
Protein change:
R631Q; ARG631GLN
Links:
UniProtKB: O14746#VAR_062783; OMIM: 187270.0011; dbSNP: rs199422294
NCBI 1000 Genomes Browser:
rs199422294
Molecular consequence:
  • NM_001193376.2:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.2:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.1892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.2:n.1971G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.2:n.1971G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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:
MONDO: MONDO:0013878; MedGen: C3553617; Orphanet: 88; OMIM: 614742

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000611696Degerman lab,Umeå Universitycriteria provided, single submitter
Pathogenic
(Nov 23, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

Norberg A, Rosén A, Raaschou-Jensen K, Kjeldsen L, Moilanen JS, Paulsson-Karlsson Y, Baliakas P, Lohi O, Ahmed A, Kittang AO, Larsson P, Roos G, Degerman S, Hultdin M.

Eur J Hum Genet. 2018 Jun;26(6):858-867. doi: 10.1038/s41431-018-0112-8. Epub 2018 Feb 26.

PubMed [citation]
PMID:
29483670
PMCID:
PMC5974393

Details of each submission

From Degerman lab,Umeå University, SCV000611696.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 28, 2021

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