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NM_001033855.3(DCLRE1C):c.*770_*773dup AND Histiocytic medullary reticulosis

Germline classification:
Uncertain significance (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:
RCV000367314.5

Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.*770_*773dup]

NM_001033855.3(DCLRE1C):c.*770_*773dup

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.*770_*773dup
HGVS:
  • NC_000010.11:g.14907636_14907639dup
  • NG_007276.1:g.51458_51461dup
  • NM_001033855.3:c.*770_*773dupMANE SELECT
  • NM_001033857.3:c.*770_*773dup
  • NM_001033858.3:c.*770_*773dup
  • NM_001289076.2:c.*770_*773dup
  • NM_001289077.2:c.*770_*773dup
  • NM_001289078.2:c.*770_*773dup
  • NM_001289079.2:c.*770_*773dup
  • NM_001350965.2:c.1782+1067_1782+1070dup
  • NM_001350966.2:c.1437+1067_1437+1070dup
  • NM_001350967.2:c.1422+1067_1422+1070dup
  • NM_022487.4:c.*770_*773dup
  • LRG_54t1:c.*770_*773dup
  • LRG_54:g.51458_51461dup
  • NC_000010.10:g.14949635_14949638dup
  • NM_001033855.1:c.*770_*773dupTAAA
  • NR_110297.2:n.3288_3291dup
  • NR_146961.2:n.3029_3032dup
  • NR_146962.1:n.3336_3339dup
Links:
dbSNP: rs770468446
NCBI 1000 Genomes Browser:
rs770468446
Molecular consequence:
  • NM_001033855.3:c.*770_*773dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001033857.3:c.*770_*773dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001033858.3:c.*770_*773dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001289076.2:c.*770_*773dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001289077.2:c.*770_*773dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001289078.2:c.*770_*773dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001289079.2:c.*770_*773dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_022487.4:c.*770_*773dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001350965.2:c.1782+1067_1782+1070dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350966.2:c.1437+1067_1437+1070dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350967.2:c.1422+1067_1422+1070dup - intron variant - [Sequence Ontology: SO:0001627]
  • NR_110297.2:n.3288_3291dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146961.2:n.3029_3032dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146962.1:n.3336_3339dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000361521Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

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, SCV000361521.2

#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