NM_198253.3(TERT):c.2287-5G>A AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 23, 2017
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:: RCV000677347.10

Allele description [Variation Report for NM_198253.3(TERT):c.2287-5G>A]

NM_198253.3(TERT):c.2287-5G>A

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.2287-5G>A

HGVS:

NC_000005.10:g.1272285C>T
NG_009265.1:g.27763G>A
NM_001193376.3:c.2287-5G>A
NM_198253.3:c.2287-5G>AMANE SELECT
LRG_343t1:c.2287-5G>A
LRG_343:g.27763G>A
NC_000005.9:g.1272400C>T
NM_198253.2:c.2287-5G>A

Links:

dbSNP: rs561426406

NCBI 1000 Genomes Browser:

rs561426406

Molecular consequence:

NM_001193376.3:c.2287-5G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_198253.3:c.2287-5G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000611699	Degerman lab, Umeå University	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 23, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 29483670

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000611699

Degerman lab, Umeå University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 23, 2017)

unknown

clinical testing

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	unknown	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV000611699.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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