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NM_001080449.3(DNA2):c.3114+6del AND Ateleiotic dwarfism

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000162161.5

Allele description [Variation Report for NM_001080449.3(DNA2):c.3114+6del]

NM_001080449.3(DNA2):c.3114+6del

Gene:
DNA2:DNA replication helicase/nuclease 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q21.3
Genomic location:
Preferred name:
NM_001080449.3(DNA2):c.3114+6del
HGVS:
  • NC_000010.11:g.68416704del
  • NG_034247.1:g.60271del
  • NM_001080449.3:c.3114+6delMANE SELECT
  • NC_000010.10:g.70176461del
  • NM_001080449.2:c.3114+6delC
Note:
NCBI staff reviewed the sequence information reported in PubMed 24389050 to determine the location of this allele on the current reference sequence. In Table 1 this is called NM_001080449.2:c.3372+6delC; in Fig. 3 it is called NM_001080449.2:c.3114+6delC, which corresponds to the given DNA sequence chromatogram.
Links:
OMIM: 601810.0004; dbSNP: rs587777614
NCBI 1000 Genomes Browser:
rs587777614
Molecular consequence:
  • NM_001080449.3:c.3114+6del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Ateleiotic dwarfism (IGHD1A)
Synonyms:
IGHD IA; PITUITARY DWARFISM I; Isolated growth hormone deficiency type 1A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009876; MedGen: C0342573; Orphanet: 631; OMIM: 262400

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196447Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center - Genomic Analysis of Primordial Dwarfism Reveals Novel Disease Genes
no assertion criteria provided

(research)		Likely pathogenic
(Dec 1, 2014) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
Arabgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, et al.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

PubMed [citation]
PMID:
25558065

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center - Genomic Analysis of Primordial Dwarfism Reveals Novel Disease Genes, SCV000196447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024