NM_001283009.2(RTEL1):c.2851+1G>T AND Dyskeratosis congenita, autosomal recessive, 5

Clinical significance:Likely pathogenic (Last evaluated: Apr 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000674227.1

Allele description [Variation Report for NM_001283009.2(RTEL1):c.2851+1G>T]

NM_001283009.2(RTEL1):c.2851+1G>T

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_001283009.2(RTEL1):c.2851+1G>T
HGVS:
  • NC_000020.11:g.63693004G>T
  • NG_033901.1:g.40195G>T
  • NG_046961.1:g.1354G>T
  • NM_001283009.2:c.2851+1G>TMANE SELECT
  • NM_001283010.1:c.2182+1G>T
  • NM_016434.4:c.2851+1G>T
  • NM_032957.4:c.2923+1G>T
  • NM_032957.5:c.2923+1G>T
  • LRG_1149t1:c.2923+1G>T
  • LRG_1149t2:c.2851+1G>T
  • LRG_1149t3:c.2851+1G>T
  • LRG_1149:g.40195G>T
  • NC_000020.10:g.62324357G>T
Links:
dbSNP: rs1421904176
NCBI 1000 Genomes Browser:
rs1421904176
Molecular consequence:
  • NM_001283009.2:c.2851+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001283010.1:c.2182+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_016434.4:c.2851+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_032957.4:c.2923+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_032957.5:c.2923+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Identifiers:
MONDO: MONDO:0014076; MedGen: C3554656; OMIM: 615190

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000799529Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 24, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000799529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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