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NM_001033855.3(DCLRE1C):c.363-5T>A AND Histiocytic medullary reticulosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 13, 2020
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:
RCV001277661.1

Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.363-5T>A]

NM_001033855.3(DCLRE1C):c.363-5T>A

Gene:
DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p13
Genomic location:
Preferred name:
NM_001033855.3(DCLRE1C):c.363-5T>A
HGVS:
  • NC_000010.11:g.14935569A>T
  • NG_007276.1:g.23527T>A
  • NM_001033855.3:c.363-5T>AMANE SELECT
  • NM_001033857.3:c.3-5T>A
  • NM_001033858.3:c.3-5T>A
  • NM_001289076.2:c.18-5T>A
  • NM_001289077.2:c.3-5T>A
  • NM_001289078.2:c.18-5T>A
  • NM_001289079.2:c.3-5T>A
  • NM_001350965.2:c.363-5T>A
  • NM_001350966.2:c.18-5T>A
  • NM_001350967.2:c.3-5T>A
  • NM_022487.4:c.18-5T>A
  • LRG_54:g.23527T>A
  • NC_000010.10:g.14977568A>T
Links:
dbSNP: rs1839771977
NCBI 1000 Genomes Browser:
rs1839771977
Molecular consequence:
  • NM_001033855.3:c.363-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001033857.3:c.3-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001033858.3:c.3-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289076.2:c.18-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289077.2:c.3-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289078.2:c.18-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289079.2:c.3-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350965.2:c.363-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350966.2:c.18-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350967.2:c.3-5T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022487.4:c.18-5T>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001464625Natera, Inc.
no assertion criteria provided
Uncertain significance
(Apr 13, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001464625.1

#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 23, 2022