NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) AND Wilson disease

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

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000333158.4

Allele description [Variation Report for NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)]

NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)

Gene:
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)
HGVS:
  • NC_000013.11:g.51939090del
  • NG_008806.1:g.77409del
  • NM_000053.4:c.3664delMANE SELECT
  • NM_001005918.3:c.3043del
  • NM_001243182.2:c.3331del
  • NM_001330578.2:c.3430del
  • NM_001330579.2:c.3412del
  • NP_000044.2:p.Asp1222fs
  • NP_001005918.1:p.Asp1015fs
  • NP_001230111.1:p.Asp1111fs
  • NP_001317507.1:p.Asp1144fs
  • NP_001317508.1:p.Asp1138fs
  • NC_000013.10:g.52513226del
  • NM_000053.3:c.3664delG
Protein change:
D1015fs
Links:
dbSNP: rs886042519
NCBI 1000 Genomes Browser:
rs886042519
Molecular consequence:
  • NM_000053.4:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001005918.3:c.3043del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243182.2:c.3331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330578.2:c.3430del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330579.2:c.3412del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000485782Counsylno assertion criteria providedLikely pathogenic
(Feb 12, 2016)
unknownclinical testing

SCV001977241Nilou-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

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 Counsyl, SCV000485782.2

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

From Nilou-Genome Lab, SCV001977241.1

#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: Oct 30, 2021

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