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NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly) AND Wilson disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 17, 2017
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:
RCV000666140.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly)]

NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly)

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.2591T>G (p.Val864Gly)
HGVS:
  • NC_000013.11:g.51950146A>C
  • NG_008806.1:g.66349T>G
  • NM_000053.4:c.2591T>GMANE SELECT
  • NM_001005918.3:c.2105T>G
  • NM_001243182.2:c.2258T>G
  • NM_001330578.2:c.2357T>G
  • NM_001330579.2:c.2339T>G
  • NP_000044.2:p.Val864Gly
  • NP_001005918.1:p.Val702Gly
  • NP_001230111.1:p.Val753Gly
  • NP_001317507.1:p.Val786Gly
  • NP_001317508.1:p.Val780Gly
  • NC_000013.10:g.52524282A>C
  • NM_000053.3:c.2591T>G
Protein change:
V702G
Links:
dbSNP: rs1555288669
NCBI 1000 Genomes Browser:
rs1555288669
Molecular consequence:
  • NM_000053.4:c.2591T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005918.3:c.2105T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243182.2:c.2258T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330578.2:c.2357T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330579.2:c.2339T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000790384Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Mar 17, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

Lepori MB, Zappu A, Incollu S, Dessì V, Mameli E, Demelia L, Nurchi AM, Gheorghe L, Maggiore G, Sciveres M, Leuzzi V, Indolfi G, Bonafé L, Casali C, Angeli P, Barone P, Cao A, Loudianos G.

Mol Cell Probes. 2012 Aug;26(4):147-50. doi: 10.1016/j.mcp.2012.03.007. Epub 2012 Mar 29.

PubMed [citation]
PMID:
22484412

Details of each submission

From Counsyl, SCV000790384.1

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

Last Updated: Nov 5, 2022