• replaced

NM_000096.3(CP):c.2684G>C (p.Gly895Ala) AND Hemosiderosis, systemic, due to aceruloplasminemia

Clinical significance:Pathogenic (Last evaluated: Dec 30, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000116819.1

Allele description

NM_000096.3(CP):c.2684G>C (p.Gly895Ala)

Gene:
CP:ceruloplasmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_000096.3(CP):c.2684G>C (p.Gly895Ala)
HGVS:
  • NC_000003.12:g.149178609C>G
  • NG_011800.2:g.48437G>C
  • NM_000096.3:c.2684G>C
  • NP_000087.1:p.Gly895Ala
  • NC_000003.11:g.148896396C>G
  • NR_046371.1:n.2724G>C
Nucleotide change:
G876A
Protein change:
G895A
Links:
dbSNP: rs139633388
GMAF:
0.0008(G), 139633388
NCBI 1000 Genomes Browser:
rs139633388
Allele Frequency:
0.0014, GO-ESP
Molecular consequence:
  • NM_000096.3:c.2684G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046371.1:n.2724G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hemosiderosis, systemic, due to aceruloplasminemia
Identifiers:
MedGen: C1858583

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000150893Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Pathogenic
(Dec 30, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
germlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000150893.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 27, 2017