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NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala) AND Wilson disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 2018
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:
RCV000674914.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala)]

NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala)

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.3071T>C (p.Val1024Ala)
HGVS:
  • NC_000013.11:g.51944281A>G
  • NG_008806.1:g.72214T>C
  • NM_000053.4:c.3071T>CMANE SELECT
  • NM_001005918.3:c.2450T>C
  • NM_001243182.2:c.2738T>C
  • NM_001330578.2:c.2837T>C
  • NM_001330579.2:c.2819T>C
  • NP_000044.2:p.Val1024Ala
  • NP_001005918.1:p.Val817Ala
  • NP_001230111.1:p.Val913Ala
  • NP_001317507.1:p.Val946Ala
  • NP_001317508.1:p.Val940Ala
  • NC_000013.10:g.52518417A>G
  • NM_000053.3:c.3071T>C
Protein change:
V1024A
Links:
dbSNP: rs1416453532
NCBI 1000 Genomes Browser:
rs1416453532
Molecular consequence:
  • NM_000053.4:c.3071T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005918.3:c.2450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243182.2:c.2738T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330578.2:c.2837T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330579.2:c.2819T>C - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000800328Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(May 31, 2018) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.

Squitti R, Siotto M, Bucossi S, Polimanti R.

Biometals. 2014 Feb;27(1):53-64. doi: 10.1007/s10534-013-9686-3. Epub 2013 Nov 20.

PubMed [citation]
PMID:
24253677

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

Park S, Park JY, Kim GH, Choi JH, Kim KM, Kim JB, Yoo HW.

Hum Mutat. 2007 Nov;28(11):1108-13.

PubMed [citation]
PMID:
17587212
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000800328.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022