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NM_000096.4(CP):c.1958_1963del (p.Ala653_Asp654del) AND Deficiency of ferroxidase

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 2022
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:
RCV002939158.3

Allele description [Variation Report for NM_000096.4(CP):c.1958_1963del (p.Ala653_Asp654del)]

NM_000096.4(CP):c.1958_1963del (p.Ala653_Asp654del)

Gene:
CP:ceruloplasmin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_000096.4(CP):c.1958_1963del (p.Ala653_Asp654del)
HGVS:
  • NC_000003.12:g.149186635_149186640del
  • NG_011800.3:g.40407_40412del
  • NM_000096.4:c.1958_1963delMANE SELECT
  • NP_000087.2:p.Ala653_Asp654del
  • NC_000003.11:g.148904421_148904426del
  • NC_000003.11:g.148904422_148904427del
Molecular consequence:
  • NM_000096.4:c.1958_1963del - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003272103Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Jun 4, 2022)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003272103.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CP-related conditions. This variant is present in population databases (rs759315393, gnomAD 0.003%). This variant, c.1958_1963del, results in the deletion of 2 amino acid(s) of the CP protein (p.Ala653_Asp654del), but otherwise preserves the integrity of the reading frame.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024