NM_000096.4(CP):c.*828dup AND Deficiency of ferroxidase

Germline classification:: 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:: RCV000399438.5

Allele description [Variation Report for NM_000096.4(CP):c.*828dup]

NM_000096.4(CP):c.*828dup

Genes:

HPS3:HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 [Gene - OMIM - HGNC]
CP:ceruloplasmin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q24

Genomic location:

Preferred name:

NM_000096.4(CP):c.*828dup

HGVS:

NC_000003.12:g.149172890dup
NG_009847.1:g.48307dup
NG_011800.2:g.54160dup
NM_000096.4:c.*828dupMANE SELECT
NM_001308258.2:c.*668dup
NM_032383.5:c.*668dupMANE SELECT
LRG_563t1:c.*668dup
LRG_563:g.48307dup
NC_000003.11:g.148890677dup
NM_000096.3:c.*828dupA
NM_032383.3:c.*668dupT

Links:

dbSNP: rs35907111

NCBI 1000 Genomes Browser:

rs35907111

Molecular consequence:

NM_000096.4:c.*828dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001308258.2:c.*668dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_032383.5:c.*668dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Deficiency of ferroxidase (ACEP)
Synonyms:: Aceruloplasminemia; Ceruloplasmin deficiency; Familial apoceruloplasmin deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011426; MedGen: C0878682; Orphanet: 48818; OMIM: 604290; Human Phenotype Ontology: HP:0025498

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000441597	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000441597

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000441597.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 23, 2024

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