NM_000096.3(CP):c.2684G>C (p.Gly895Ala) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 13, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000419016.1

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000511090Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Uncertain Significance
(Sep 13, 2016)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000511090.1

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

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.002434not providednot provided

Last Updated: Jul 9, 2018