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NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 22, 2016
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:
RCV002323574.3

Allele description [Variation Report for NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)]

NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)

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.3191A>C (p.Glu1064Ala)
HGVS:
  • NC_000013.11:g.51944161T>G
  • NG_008806.1:g.72334A>C
  • NM_000053.4:c.3191A>CMANE SELECT
  • NM_001005918.3:c.2570A>C
  • NM_001243182.2:c.2858A>C
  • NM_001330578.2:c.2957A>C
  • NM_001330579.2:c.2939A>C
  • NP_000044.2:p.Glu1064Ala
  • NP_001005918.1:p.Glu857Ala
  • NP_001230111.1:p.Glu953Ala
  • NP_001317507.1:p.Glu986Ala
  • NP_001317508.1:p.Glu980Ala
  • NC_000013.10:g.52518297T>G
  • NM_000053.2:c.3191A>C
  • NM_000053.3:c.3191A>C
  • p.Glu1064Ala
Protein change:
E1064A
Links:
dbSNP: rs374094065
NCBI 1000 Genomes Browser:
rs374094065
Molecular consequence:
  • NM_000053.4:c.3191A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005918.3:c.2570A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243182.2:c.2858A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330578.2:c.2957A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330579.2:c.2939A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002609624Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 22, 2016) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F.

Morgan CT, Tsivkovskii R, Kosinsky YA, Efremov RG, Lutsenko S.

J Biol Chem. 2004 Aug 27;279(35):36363-71. Epub 2004 Jun 17.

PubMed [citation]
PMID:
15205462

Wilson disease in septuagenarian siblings: Raising the bar for diagnosis.

Ala A, Borjigin J, Rochwarger A, Schilsky M.

Hepatology. 2005 Mar;41(3):668-70.

PubMed [citation]
PMID:
15723329
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002609624.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.E1064A pathogenic mutation (also known as c.3191A>C), located in coding exon 14 of the ATP7B gene, results from an A to C substitution at nucleotide position 3191. The glutamic acid at codon 1064 is replaced by alanine, an amino acid with dissimilar properties. This mutation was detected in two siblings with Wilson disease and the p.H1069Q pathogenic mutation in trans (Ala A, Hepatology 2005 Mar; 41(3):668-70). In addition, functional studies show this alteration results in the complete loss of ATP binding (Morgan CT, J. Biol. Chem. 2004 Aug; 279(35):36363-71). Based on the supporting evidence, p.E1064A is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024