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NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr) AND Wilson disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 1, 2021
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:
RCV001506989.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr)]

NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr)

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.3547G>A (p.Ala1183Thr)
HGVS:
  • NC_000013.11:g.51941090C>T
  • NG_008806.1:g.75405G>A
  • NM_000053.4:c.3547G>AMANE SELECT
  • NM_001005918.3:c.2926G>A
  • NM_001243182.2:c.3214G>A
  • NM_001330578.2:c.3313G>A
  • NM_001330579.2:c.3295G>A
  • NP_000044.2:p.Ala1183Thr
  • NP_001005918.1:p.Ala976Thr
  • NP_001230111.1:p.Ala1072Thr
  • NP_001317507.1:p.Ala1105Thr
  • NP_001317508.1:p.Ala1099Thr
  • NC_000013.10:g.52515226C>T
  • NM_000053.3:c.3547G>A
  • p.Ala1183Thr
Protein change:
A1072T
Links:
dbSNP: rs2138775370
NCBI 1000 Genomes Browser:
rs2138775370
Molecular consequence:
  • NM_000053.4:c.3547G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005918.3:c.2926G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243182.2:c.3214G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330578.2:c.3313G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330579.2:c.3295G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001711912Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 1, 2021) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

Loudianos G, Dessì V, Lovicu M, Angius A, Nurchi A, Sturniolo GC, Marcellini M, Zancan L, Bragetti P, Akar N, Yagci R, Vegnente A, Cao A, Pirastu M.

Hum Mutat. 1998;12(2):89-94.

PubMed [citation]
PMID:
9671269

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.

Hsi G, Cullen LM, Macintyre G, Chen MM, Glerum DM, Cox DW.

Hum Mutat. 2008 Apr;29(4):491-501. doi: 10.1002/humu.20674.

PubMed [citation]
PMID:
18203200
See all PubMed Citations (5)

Details of each submission

From Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon, SCV001711912.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 24, 2023