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NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) AND Dyskeratosis congenita, autosomal dominant 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000032175.4

Allele description [Variation Report for NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)]

NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)

Gene:
TINF2:TERF1 interacting nuclear factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)
HGVS:
  • NC_000014.9:g.24240620A>G
  • NG_016650.1:g.7055T>C
  • NG_054634.1:g.13204A>G
  • NM_001099274.3:c.860T>CMANE SELECT
  • NM_001363668.2:c.755T>C
  • NM_012461.3:c.860T>C
  • NP_001092744.1:p.Leu287Pro
  • NP_001350597.1:p.Leu252Pro
  • NP_036593.2:p.Leu287Pro
  • LRG_342t1:c.860T>C
  • LRG_342t2:c.860T>C
  • LRG_342:g.7055T>C
  • LRG_342p1:p.Leu287Pro
  • LRG_342p2:p.Leu287Pro
  • NC_000014.8:g.24709826A>G
  • NM_001099274.1:c.860T>C
Protein change:
L252P
Links:
dbSNP: rs199422316
NCBI 1000 Genomes Browser:
rs199422316
Molecular consequence:
  • NM_001099274.3:c.860T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363668.2:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012461.3:c.860T>C - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055754GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Dyskeratosis Congenita and Related Telomere Biology Disorders.

Savage SA, Niewisch MR.

2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301779

Details of each submission

From GeneReviews, SCV000055754.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2024