NM_000053.4(ATP7B):c.2865+1G>A AND Wilson disease

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Aug 10, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000145266.4

Allele description [Variation Report for NM_000053.4(ATP7B):c.2865+1G>A]

NM_000053.4(ATP7B):c.2865+1G>A

Gene:
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_000053.4(ATP7B):c.2865+1G>A
HGVS:
  • NC_000013.11:g.51949661C>T
  • NG_008806.1:g.66834G>A
  • NM_000053.4:c.2865+1G>AMANE SELECT
  • NM_001005918.3:c.2244+346G>A
  • NM_001243182.2:c.2532+1G>A
  • NM_001330578.2:c.2631+1G>A
  • NM_001330579.2:c.2613+1G>A
  • NC_000013.10:g.52523797C>T
  • NM_000053.3:c.2865+1G>A
Links:
dbSNP: rs587783306
NCBI 1000 Genomes Browser:
rs587783306
Molecular consequence:
  • NM_001005918.3:c.2244+346G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000053.4:c.2865+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001243182.2:c.2532+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330578.2:c.2631+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330579.2:c.2613+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Wilson disease (WND)
Synonyms:
Wilson's disease; Hepatolenticular degeneration
Identifiers:
MONDO: MONDO:0010200; MedGen: C0019202; Orphanet: 905; OMIM: 277900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000192333Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Pathogenic
(Feb 8, 2013)
germlineclinical testing

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

SCV000485317Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 19, 2015)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf,

Citation Link,

SCV001977298Nilou-Genome Labcriteria provided, single submitter
Pathogenic
(Aug 10, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot 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

Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.

Bost M, Piguet-Lacroix G, Parant F, Wilson CM.

J Trace Elem Med Biol. 2012 Jun;26(2-3):97-101. doi: 10.1016/j.jtemb.2012.04.024. Epub 2012 Jun 5.

PubMed [citation]
PMID:
22677543
See all PubMed Citations (5)

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000192333.1

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

From Counsyl, SCV000485317.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Nilou-Genome Lab, SCV001977298.1

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

Last Updated: Nov 27, 2021

Support Center