NR_001566.1(TERC):n.2G>C AND Dyskeratosis congenita, autosomal dominant 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 10, 2012
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:: RCV000032568.2

Allele description [Variation Report for NR_001566.1(TERC):n.2G>C]

NR_001566.1(TERC):n.2G>C

Genes:

LOC110806306:telomerase RNA component (TERC) promoter [Gene]
TERC:telomerase RNA component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.2

Genomic location:

Preferred name:

NR_001566.1(TERC):n.2G>C

HGVS:

NC_000003.12:g.169765059C>G
NG_016363.1:g.5002G>C
NG_055509.1:g.168C>G
LRG_347t1:n.2G>C
LRG_347:g.5002G>C
NC_000003.11:g.169482847C>G
NR_001566.1:n.2G>C

Nucleotide change:

NR_001566.1:r.2g>c (G2C)

Links:

dbSNP: rs199422257

NCBI 1000 Genomes Browser:

rs199422257

Molecular consequence:

NR_001566.1:n.2G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dyskeratosis congenita, autosomal dominant 1 (DKCA1)
Synonyms:: Dyskeratosis congenita autosomal dominant; Dyskeratosis congenita Scoggins type
Identifiers:: MONDO: MONDO:0007485; MedGen: C4551974; Orphanet: 1775; OMIM: 127550

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056240	GeneReviews	no assertion criteria provided	pathologic (May 10, 2012)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056240

GeneReviews

no assertion criteria provided

pathologic
(May 10, 2012)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From GeneReviews, SCV000056240.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Converted during submission to Pathogenic.

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

Last Updated: Mar 26, 2023

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