NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 30, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001091638.4

Allele description [Variation Report for NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)]

NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser)

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.2827G>A (p.Gly943Ser)
HGVS:
  • NC_000013.11:g.51949700C>T
  • NG_008806.1:g.66795G>A
  • NM_000053.4:c.2827G>AMANE SELECT
  • NM_001005918.3:c.2244+307G>A
  • NM_001243182.2:c.2494G>A
  • NM_001330578.2:c.2593G>A
  • NM_001330579.2:c.2575G>A
  • NP_000044.2:p.Gly943Ser
  • NP_001230111.1:p.Gly832Ser
  • NP_001317507.1:p.Gly865Ser
  • NP_001317508.1:p.Gly859Ser
  • NC_000013.10:g.52523836C>T
  • NM_000053.2:c.2827G>A
  • NM_000053.3:c.2827G>A
  • P35670:p.Gly943Ser
Protein change:
G832S; GLY943SER
Links:
UniProtKB: P35670#VAR_000745; OMIM: 606882.0013; dbSNP: rs28942076
NCBI 1000 Genomes Browser:
rs28942076
Molecular consequence:
  • NM_001005918.3:c.2244+307G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000053.4:c.2827G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243182.2:c.2494G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330578.2:c.2593G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330579.2:c.2575G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001247797CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(May 1, 2018)
germlineclinical testing

Citation Link,

SCV001716160Mayo Clinic Laboratories,Mayo Cliniccriteria provided, single submitter
Pathogenic
(Jan 30, 2020)
germlineclinical testing

PubMed (13)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

The Wilson disease gene: spectrum of mutations and their consequences.

Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW.

Nat Genet. 1995 Feb;9(2):210-7. Erratum in: Nat Genet 1995 Apr;9(4):451.

PubMed [citation]
PMID:
7626145

Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?

Forbes JR, Cox DW.

Am J Hum Genet. 1998 Dec;63(6):1663-74.

PubMed [citation]
PMID:
9837819
PMCID:
PMC1377638
See all PubMed Citations (13)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247797.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Mayo Clinic Laboratories,Mayo Clinic, SCV001716160.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (13)

Description

PS3, PS4_moderate, PM2, PP1, PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 2, 2021

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