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NM_198253.3(TERT):c.1122_1134del (p.Thr375fs) AND Dyskeratosis congenita, autosomal dominant 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 27, 2020
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:
RCV001250577.1

Allele description [Variation Report for NM_198253.3(TERT):c.1122_1134del (p.Thr375fs)]

NM_198253.3(TERT):c.1122_1134del (p.Thr375fs)

Gene:
TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_198253.3(TERT):c.1122_1134del (p.Thr375fs)
HGVS:
  • NC_000005.10:g.1293756_1293768del
  • NG_009265.1:g.6284_6296del
  • NM_001193376.3:c.1122_1134del
  • NM_198253.3:c.1122_1134delMANE SELECT
  • NP_001180305.1:p.Thr375fs
  • NP_937983.2:p.Thr375fs
  • LRG_343t1:c.1122_1134del
  • LRG_343:g.6284_6296del
  • NC_000005.9:g.1293871_1293883del
  • NM_198253.2:c.1122_1134del
  • NR_149162.3:n.1201_1213del
  • NR_149163.3:n.1201_1213del
Protein change:
T375fs
Links:
dbSNP: rs1751159700
NCBI 1000 Genomes Browser:
rs1751159700
Molecular consequence:
  • NM_001193376.3:c.1122_1134del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198253.3:c.1122_1134del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_149162.3:n.1201_1213del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.1201_1213del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dyskeratosis congenita, autosomal dominant 2
Identifiers:
MONDO: MONDO:0013521; MedGen: C3151443; OMIM: 613989

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001425442Johns Hopkins Genomics, Johns Hopkins University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 27, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV001425442.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This TERT variant is absent from large population datasets and has not been reported in the literature, to our knowledge. This frameshift variant results in a premature stop codon in exon 2 of 16, likely leading to nonsense-mediated decay and lack of protein production. We consider this variant to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022