NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 6, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000078041.9

Allele description [Variation Report for NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)]

NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)

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.2305A>G (p.Met769Val)
HGVS:
  • NC_000013.11:g.51958361T>C
  • NG_008806.1:g.58134A>G
  • NM_000053.4:c.2305A>GMANE SELECT
  • NM_001005918.3:c.1870-754A>G
  • NM_001243182.2:c.1972A>G
  • NM_001330578.2:c.2122-754A>G
  • NM_001330579.2:c.2053A>G
  • NP_000044.2:p.Met769Val
  • NP_000044.2:p.Met769Val
  • NP_001230111.1:p.Met658Val
  • NP_001317508.1:p.Met685Val
  • NC_000013.10:g.52532497T>C
  • NM_000053.3:c.2305A>G
  • P35670:p.Met769Val
Protein change:
M658V
Links:
UniProtKB: P35670#VAR_000725; dbSNP: rs193922103
NCBI 1000 Genomes Browser:
rs193922103
Molecular consequence:
  • NM_001005918.3:c.1870-754A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330578.2:c.2122-754A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000053.4:c.2305A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243182.2:c.1972A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330579.2:c.2053A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
9

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232468EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jun 28, 2016)
germlineclinical testing

Citation Link,

SCV000520885GeneDxcriteria provided, single submitter
Pathogenic
(Jul 6, 2021)
germlineclinical testing

Citation Link,

SCV001716169Mayo Clinic Laboratories,Mayo Cliniccriteria provided, single submitter
Pathogenic
(Feb 17, 2021)
germlineclinical testing

PubMed (17)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown9not 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 (17)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232468.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided6not providednot providednot provided

From GeneDx, SCV000520885.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies found M767V is associated with significantly reduced copper uptake and decreased thermal stability compared to wildtype (Forbes et al., 1998; Huster et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 31980526, 21610751, 29321352, 10942420, 12557139, 22240481, 11690702, 14986826, 16939419, 17717039, 24253677, 29431110, 19118915, 27022412, 11405812, 10502777, 9311736, 23518715, 22692182, 11093740, 7626145, 20517649, 9837819, 18371106)

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

From Mayo Clinic Laboratories,Mayo Clinic, SCV001716169.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (17)

Description

PS4, PS3, PM2, PM5, PP4, PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Dec 4, 2021

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