NM_000096.3(CP):c.1430C>T (p.Pro477Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 13, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000192950.1

Allele description [Variation Report for NM_000096.3(CP):c.1430C>T (p.Pro477Leu)]

NM_000096.3(CP):c.1430C>T (p.Pro477Leu)

Gene:
CP:ceruloplasmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_000096.3(CP):c.1430C>T (p.Pro477Leu)
HGVS:
  • NC_000003.12:g.149199783G>A
  • NG_011800.2:g.27263C>T
  • NM_000096.3:c.1430C>T
  • NP_000087.1:p.Pro477Leu
  • NC_000003.11:g.148917570G>A
  • NR_046371.1:n.1683C>T
Protein change:
P477L
Links:
dbSNP: rs35331711
NCBI 1000 Genomes Browser:
rs35331711
Molecular consequence:
  • NM_000096.3:c.1430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046371.1:n.1683C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000247086Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Uncertain significance
(Mar 13, 2015)
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

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 Genetic Services Laboratory, University of Chicago, SCV000247086.1

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

Last Updated: Mar 30, 2019

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