NM_000096.4(CP):c.2571C>T (p.Tyr857=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Sep 28, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000725836.5

Allele description [Variation Report for NM_000096.4(CP):c.2571C>T (p.Tyr857=)]

NM_000096.4(CP):c.2571C>T (p.Tyr857=)

Gene:
CP:ceruloplasmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
HGVS:
  • NC_000003.12:g.149179646G>A
  • NG_011800.2:g.47400C>T
  • NG_011800.3:g.47400C>T
  • NM_000096.4:c.2571C>TMANE SELECT
  • NP_000087.2:p.Tyr857=
  • NC_000003.11:g.148897433G>A
  • NM_000096.3:c.2571C>T
  • NR_046371.2:n.2395C>T
Links:
dbSNP: rs151304828
NCBI 1000 Genomes Browser:
rs151304828
Molecular consequence:
  • NR_046371.2:n.2395C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000096.4:c.2571C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000339821EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Feb 18, 2016)
germlineclinical testing

Citation Link,

SCV001781772GeneDxcriteria provided, single submitter
Likely benign
(Sep 28, 2020)
germlineclinical testing

Citation Link,

SCV001807965Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000339821.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001781772.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807965.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 25, 2021

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