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NM_001033855.3(DCLRE1C):c.*719dup AND Histiocytic medullary reticulosis

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000365908.5

Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.*719dup]

NM_001033855.3(DCLRE1C):c.*719dup

Gene:
DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001033855.3(DCLRE1C):c.*719dup
HGVS:
  • NC_000010.11:g.14907693dup
  • NG_007276.1:g.51407dup
  • NM_001033855.3:c.*719dupMANE SELECT
  • NM_001033857.3:c.*719dup
  • NM_001033858.3:c.*719dup
  • NM_001289076.2:c.*719dup
  • NM_001289077.2:c.*719dup
  • NM_001289078.2:c.*719dup
  • NM_001289079.2:c.*719dup
  • NM_001350965.2:c.1782+1012dup
  • NM_001350966.2:c.1437+1012dup
  • NM_001350967.2:c.1422+1012dup
  • NM_022487.4:c.*719dup
  • LRG_54t1:c.*719dup
  • LRG_54:g.51407dup
  • NC_000010.10:g.14949692dup
  • NM_001033855.1:c.*719dupA
  • NR_110297.2:n.3237dup
  • NR_146961.2:n.2978dup
  • NR_146962.1:n.3285dup
Links:
dbSNP: rs41300680
NCBI 1000 Genomes Browser:
rs41300680
Molecular consequence:
  • NM_001033855.3:c.*719dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001033857.3:c.*719dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001033858.3:c.*719dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001289076.2:c.*719dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001289077.2:c.*719dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001289078.2:c.*719dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001289079.2:c.*719dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_022487.4:c.*719dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350965.2:c.1782+1012dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350966.2:c.1437+1012dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350967.2:c.1422+1012dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_110297.2:n.3237dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146961.2:n.2978dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146962.1:n.3285dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Histiocytic medullary reticulosis
Synonyms:
Omenn syndrome; Reticuloendotheliosis familial with eosinophilia; Severe combined immunodeficiency with hypereosinophilia
Identifiers:
MONDO: MONDO:0011338; MedGen: C2700553; Orphanet: 39041; OMIM: 603554

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000361524Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000361524.2

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

Last Updated: Apr 9, 2023