NM_000053.4(ATP7B):c.3556+29TC[2] AND Wilson disease

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 23, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001001453.8

Allele description [Variation Report for NM_000053.4(ATP7B):c.3556+29TC[2]]

NM_000053.4(ATP7B):c.3556+29TC[2]

Gene:
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_000053.4(ATP7B):c.3556+29TC[2]
HGVS:
  • NC_000013.11:g.51941048AG[2]
  • NC_000013.11:g.51941048_51941049AG[2]
  • NG_008806.1:g.75443TC[2]
  • NM_000053.4:c.3556+29TC[2]MANE SELECT
  • NM_001005918.3:c.2935+29TC[2]
  • NM_001243182.2:c.3223+29TC[2]
  • NM_001330578.2:c.3322+29TC[2]
  • NM_001330579.2:c.3304+29TC[2]
  • NC_000013.10:g.52515184AG[2]
  • NC_000013.10:g.52515188_52515189delAG
Links:
dbSNP: rs575346789
NCBI 1000 Genomes Browser:
rs575346789
Molecular consequence:
  • NM_000053.4:c.3556+29TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005918.3:c.2935+29TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001243182.2:c.3223+29TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330578.2:c.3322+29TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330579.2:c.3304+29TC[2] - intron variant - [Sequence Ontology: SO:0001627]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001158700ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely benign
(Apr 23, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158700.1

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

Last Updated: Mar 4, 2023