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NM_000053.4(ATP7B):c.3904-2A>G AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001507824.17

Allele description [Variation Report for NM_000053.4(ATP7B):c.3904-2A>G]

NM_000053.4(ATP7B):c.3904-2A>G

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.3904-2A>G
HGVS:
  • NC_000013.11:g.51937395T>C
  • NG_008806.1:g.79100A>G
  • NM_000053.4:c.3904-2A>GMANE SELECT
  • NM_001005918.3:c.3283-2A>G
  • NM_001243182.2:c.3571-2A>G
  • NM_001330578.2:c.3670-2A>G
  • NM_001330579.2:c.3652-2A>G
  • NM_001406511.1:c.3904-2A>G
  • NM_001406512.1:c.3904-2A>G
  • NM_001406513.1:c.3898-2A>G
  • NM_001406514.1:c.3871-2A>G
  • NM_001406515.1:c.3850-2A>G
  • NM_001406516.1:c.3850-2A>G
  • NM_001406517.1:c.3808-2A>G
  • NM_001406518.1:c.3808-2A>G
  • NM_001406519.1:c.3769-2A>G
  • NM_001406520.1:c.3760-2A>G
  • NM_001406521.1:c.3760-2A>G
  • NM_001406522.1:c.3760-2A>G
  • NM_001406523.1:c.3721-2A>G
  • NM_001406524.1:c.3727-2A>G
  • NM_001406525.1:c.3709-2A>G
  • NM_001406526.1:c.3700-2A>G
  • NM_001406527.1:c.3670-2A>G
  • NM_001406528.1:c.3670-2A>G
  • NM_001406530.1:c.3664-2A>G
  • NM_001406531.1:c.3652-2A>G
  • NM_001406532.1:c.3652-2A>G
  • NM_001406534.1:c.3616-2A>G
  • NM_001406535.1:c.3574-2A>G
  • NM_001406536.1:c.3574-2A>G
  • NM_001406537.1:c.3565-2A>G
  • NM_001406538.1:c.3526-2A>G
  • NM_001406539.1:c.3475-2A>G
  • NM_001406540.1:c.3457-2A>G
  • NM_001406541.1:c.3418-2A>G
  • NM_001406542.1:c.3418-2A>G
  • NM_001406543.1:c.3412-2A>G
  • NM_001406544.1:c.3322-2A>G
  • NM_001406545.1:c.3256-2A>G
  • NM_001406546.1:c.3223-2A>G
  • NM_001406547.1:c.3061-2A>G
  • NM_001406548.1:c.2614-2A>G
  • NC_000013.10:g.52511531T>C
  • NM_000053.2:c.3904-2A>G
  • NM_000053.3:c.3904-2A>G
Links:
dbSNP: rs1057517233
NCBI 1000 Genomes Browser:
rs1057517233
Molecular consequence:
  • NM_000053.4:c.3904-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001005918.3:c.3283-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001243182.2:c.3571-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001330578.2:c.3670-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001330579.2:c.3652-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406511.1:c.3904-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406512.1:c.3904-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406513.1:c.3898-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406514.1:c.3871-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406515.1:c.3850-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406516.1:c.3850-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406517.1:c.3808-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406518.1:c.3808-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406519.1:c.3769-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406520.1:c.3760-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406521.1:c.3760-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406522.1:c.3760-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406523.1:c.3721-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406524.1:c.3727-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406525.1:c.3709-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406526.1:c.3700-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406527.1:c.3670-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406528.1:c.3670-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406530.1:c.3664-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406531.1:c.3652-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406532.1:c.3652-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406534.1:c.3616-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406535.1:c.3574-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406536.1:c.3574-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406537.1:c.3565-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406538.1:c.3526-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406539.1:c.3475-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406540.1:c.3457-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406541.1:c.3418-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406542.1:c.3418-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406543.1:c.3412-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406544.1:c.3322-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406545.1:c.3256-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406546.1:c.3223-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406547.1:c.3061-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406548.1:c.2614-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001713631Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 19, 2020) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

SCV002497670CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Mar 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, Lovicu M, Olla N, Sole G, et al.

Am J Hum Genet. 1995 Dec;57(6):1318-24.

PubMed [citation]
PMID:
8533760
PMCID:
PMC1801406

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Abdel Ghaffar TY, Elsayed SM, Elnaghy S, Shadeed A, Elsobky ES, Schmidt H.

BMC Pediatr. 2011 Jun 17;11:56. doi: 10.1186/1471-2431-11-56.

PubMed [citation]
PMID:
21682854
PMCID:
PMC3132721
See all PubMed Citations (10)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (10)

Description

PVS1, PS4, PM2, PP4

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

From CeGaT Center for Human Genetics Tuebingen, SCV002497670.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ATP7B: PVS1, PM2

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

Last Updated: Apr 15, 2024