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NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Oct 12, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000495412.4
Variation ID:
495412
Description:
single nucleotide variant
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NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe)

Allele ID
487755
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.3
Genomic location
13: 51942551 (GRCh38) GRCh38 UCSC
13: 52516687 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.52516687G>A
NC_000013.11:g.51942551G>A
NG_008806.1:g.73944C>T
... more HGVS
Protein change
L1083F, L876F, L1005F, L972F, L999F
Other names
-
Canonical SPDI
NC_000013.11:51942550:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA388029024
dbSNP: rs1286080173
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Aug 10, 2021 RCV000586978.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP7B - - GRCh38
GRCh37
1321 1385

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 21, 2016)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694441.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: The ATP7B c.3247C>T (p.Leu1083Phe) variant involves the alteration of a conserved nucleotide. 4/5 in silico tools predict a damaging outcome for this variant. … (more)
Likely pathogenic
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001977262.1
Submitted: (Oct 12, 2021)
Evidence details
Likely pathogenic
(Jun 27, 2019)
no assertion criteria provided
Method: clinical testing
Wilson disease
Allele origin: unknown
Counsyl
Accession: SCV001132129.1
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (9)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Wilson disease
Allele origin: germline
Natera, Inc.
Accession: SCV001455592.1
Submitted: (Dec 28, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease. Jung S Journal of proteome research 2017 PMID: 27935710
Pseudo-dominant inheritance in Wilson's disease. Park H Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2016 PMID: 26466587
Diverse functional properties of Wilson disease ATP7B variants. Huster D Gastroenterology 2012 PMID: 22240481
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. Lee BH Liver international : official journal of the International Association for the Study of the Liver 2011 PMID: 21645214
Teaching NeuroImages: MRI reversal in Wilson disease with trientine treatment. Park HK Neurology 2010 PMID: 20421574
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. Hsi G Human mutation 2008 PMID: 18203200
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. Yoo HW Genetics in medicine : official journal of the American College of Medical Genetics 2002 PMID: 12544487
Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene. Ohya K European journal of pediatrics 2002 PMID: 11954751
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. Okada T Human mutation 2000 PMID: 10790207

Text-mined citations for rs1286080173...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021