ClinVar Genomic variation as it relates to human health
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
Variation ID: 3859 Accession: VCV000003859.66
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q14.3 13: 51937570 (GRCh38) [ NCBI UCSC ] 13: 52511706 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 23, 2014 Apr 20, 2024 Jan 4, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000053.4:c.3809A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000044.2:p.Asn1270Ser missense NM_001005918.3:c.3188A>G NP_001005918.1:p.Asn1063Ser missense NM_001243182.2:c.3476A>G NP_001230111.1:p.Asn1159Ser missense NM_001330578.2:c.3575A>G NP_001317507.1:p.Asn1192Ser missense NM_001330579.2:c.3557A>G NP_001317508.1:p.Asn1186Ser missense NC_000013.11:g.51937570T>C NC_000013.10:g.52511706T>C NG_008806.1:g.78925A>G P35670:p.Asn1270Ser - Protein change
- N1270S, N1186S, N1063S, N1192S, N1159S
- Other names
- N915S
- Canonical SPDI
- NC_000013.11:51937569:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- effect on protein interaction Variation Ontology [VariO:0058]
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00030
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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ATP7B | - | - |
GRCh38 GRCh37 |
2850 | 2991 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (14) |
criteria provided, multiple submitters, no conflicts
|
Jan 4, 2024 | RCV000004063.45 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jul 1, 2023 | RCV000595271.30 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 3, 2017 | RCV002354147.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 3, 2023 | RCV003904803.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Feb 08, 2013)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000192352.1
First in ClinVar: Nov 23, 2014 Last updated: Nov 23, 2014 |
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Pathogenic
(Nov 11, 2016)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000700721.2
First in ClinVar: Apr 02, 2018 Last updated: Apr 02, 2018 |
Number of individuals with the variant: 2
Sex: mixed
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Pathogenic
(Jul 02, 2018)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918603.1
First in ClinVar: May 31, 2019 Last updated: May 31, 2019 |
Comment:
Variant summary: ATP7B c.3809A>G (p.Asn1270Ser) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more)
Variant summary: ATP7B c.3809A>G (p.Asn1270Ser) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00015 in 120980 control chromosomes. This frequency is not higher than expected for a pathogenic variant in ATP7B causing Wilson Disease (0.00015 vs 0.0054), allowing no conclusion about variant significance. c.3809A>G has been reported in the literature in numerous individuals affected with Wilson Disease as both a homozygous and compound heterozygous allele. These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence on the variant and showed that copper uptake and transport are both defective (Huster_2012). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jan 03, 2020)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV001194119.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 03, 2020 |
Comment:
NM_000053.3(ATP7B):c.3809A>G(N1270S) is classified as pathogenic in the context of Wilson Disease. Sources cited for classification include the following: PMID 23518715, 12544487, 22240481, 10790207, 9452121, 9829905, … (more)
NM_000053.3(ATP7B):c.3809A>G(N1270S) is classified as pathogenic in the context of Wilson Disease. Sources cited for classification include the following: PMID 23518715, 12544487, 22240481, 10790207, 9452121, 9829905, 19419418, 9311736, 7626145 and 9654149. Classification of NM_000053.3(ATP7B):c.3809A>G(N1270S) is based on the following criteria: This is a well-established pathogenic variant in the literature that has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Jul 22, 2021)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV001810290.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
Sex: mixed
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Pathogenic
(Aug 03, 2017)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002620184.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The p.N1270S pathogenic mutation (also known as c.3809A>G), located in coding exon 18 of the ATP7B gene, results from an A to G substitution at … (more)
The p.N1270S pathogenic mutation (also known as c.3809A>G), located in coding exon 18 of the ATP7B gene, results from an A to G substitution at nucleotide position 3809. The asparagine at codon 1270 is replaced by serine, an amino acid with highly similar properties. This mutation has been identified in multiple individuals with Wilson disease, including several homozygous individuals (Yoo HW. Genet. Med. 2002;4:43S-48S; Deguti MM et al. Hum. Mutat., 2004 Apr;23:398; Barada K et al. J. Clin. Gastroenterol., 2010 Jul;44:432-9). When expressed in Sf9 cells, this mutation demonstrated impaired chloride transport and hyperphosphorylation (Huster D et al. Gastroenterology, 2012 Apr;142:947-956.e5). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Mar 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713633.3
First in ClinVar: Jun 15, 2021 Last updated: Jan 26, 2024 |
Comment:
PP3, PP4, PP5, PM2, PS3, PS4_moderate
Number of individuals with the variant: 6
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Pathogenic
(Aug 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002024364.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jul 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001247791.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Comment:
ATP7B: PM2, PM3, PM5, PP1, PP4, PS3:Supporting, PS4:Supporting
Number of individuals with the variant: 5
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Pathogenic
(Jun 11, 2020)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004847782.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Asn1270Ser variant in ATP7B has been identified in >50 probands across multiple ethnic groups with Wilson disease, including at least 4 homozygotes and >15 … (more)
The p.Asn1270Ser variant in ATP7B has been identified in >50 probands across multiple ethnic groups with Wilson disease, including at least 4 homozygotes and >15 compound heterozygotes, and has segregated in at least 4 affected siblings (Abuduxikuer 2015, Barada2010, Bost 2012, Chen 2019, Coffey 2013, Daneshjoo 2018, Deguti 2004, Dong 2016, Guggilla 2015, Hua 2016, Kuppala 2009, Li 2013, Okada 2000, Shah 1997, Wan 2010, Yoo 2002, Zali 2011). This variant has also been identified in 0.08% (30/35376) of Latino chromosomes, including 1 homozygote by gnomAD (http://gnomad.broadinstitute.org); however, this frequency is low enough to be consistent with a recessive allele frequency given an estimated prevalence of 1/30000 for Wilson disease. In vitro functional studies suggest that the variant may impact protein function (Huster 2012, Lida 1998), and computational prediction tools and conservation analysis suggest that this variant may impact the protein. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Wilson disease. ACMG/AMP criteria applied: PM3_VeryStrong, PP1_Strong, PP3, PP4, PS3_Supporting. (less)
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Pathogenic
(Jan 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV001752571.2
First in ClinVar: Jul 18, 2021 Last updated: Dec 31, 2022 |
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Pathogenic
(Apr 21, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV002558357.2
First in ClinVar: Aug 08, 2022 Last updated: Mar 04, 2023 |
Comment:
Published functional studies indicate that this variant leads to hyperphosphorylation and affects copper transport, supporting a damaging effect (Iida et al., 1998; Huster et al., … (more)
Published functional studies indicate that this variant leads to hyperphosphorylation and affects copper transport, supporting a damaging effect (Iida 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: 24253677, 20485189, 22240481, 9654149, 29540233, 8298641, 32154060, 30655162, 23518715, 30275481, 25637381, 22692182, 25982861, 26269689, 27398169, 10194254, 9829905, 19419418, 7626145, 9452121, 12544487, 10790207, 9311736, 30558096, 31708252, 34324271, 31589614, 34426522, 34240825, 34470610, Huong2022[article], 35222532, 33879678, Rosa2022[article], 34002136, 35395623) (less)
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Pathogenic
(Jun 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV003932614.1
First in ClinVar: Jun 17, 2023 Last updated: Jun 17, 2023 |
Comment:
A homozygous missense variant in exon 18 of the ATP7B gene that results in the amino acid substitution of Serine for Asparagine at codon 1270 … (more)
A homozygous missense variant in exon 18 of the ATP7B gene that results in the amino acid substitution of Serine for Asparagine at codon 1270 (p.Asn1270Ser) was detected. The p.Asn1270Ser variant has not been reported in the 1000 genomes databases and has a minor allele frequency of 0.04%, 0.02% and 0.03% in the gnomAD (v3.1), gnomdAD (v2) and topmed databases respectively. The in silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic. (less)
Age: 30-39 years
Sex: male
Method: DNA was used to perform targeted gene capture using a custom capture kit. Libraries were sequenced to mean >80-100X coverage on Illumina sequencing platform. Sequence obtained were aligned to human references genome using BWA program and analyzed using Picard and GATK-Lite toolkit to identify variants in the targeted genes relevant to clinical indication.
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Pathogenic
(Oct 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216259.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Pathogenic
(Jan 04, 2024)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000626859.9
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1270 of the ATP7B protein (p.Asn1270Ser). … (more)
This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1270 of the ATP7B protein (p.Asn1270Ser). This variant is present in population databases (rs121907990, gnomAD 0.08%). This missense change has been observed in individuals with Wilson disease (PMID: 20485189, 26269689, 27398169). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3859). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP7B protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects ATP7B function (PMID: 9654149, 22240481). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Dec 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001157792.3
First in ClinVar: Feb 09, 2020 Last updated: Feb 20, 2024 |
Comment:
The ATP7B c.3809A>G; p.Asn1270Ser variant (rs121907990) is reported in the literature in numerous individuals affected with Wilson disease (Abuduxikuer 2015, Barada 2010, Daneshjoo 2018, Guggilla … (more)
The ATP7B c.3809A>G; p.Asn1270Ser variant (rs121907990) is reported in the literature in numerous individuals affected with Wilson disease (Abuduxikuer 2015, Barada 2010, Daneshjoo 2018, Guggilla 2015, Hua 2016, Tanzi 1993, Todorov 2005). This variant has been reported to cosegregate with disease in families, both in the homozygous state (Barada 2010, Tanzi 1993) and in trans to another pathogenic variant (Daneshjoo 2018). The asparagine at codon 1270 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.896). Biochemical analyses indicate this variant has severely reduced copper transport activity (Huster 2012), and it fails to rescue growth defects of mutant yeast to the extent of wildtype protein (Iida 1998). Additionally, other variants at this codon (p.Asn1270Asp, p.Asn1270Ile) have been reported in Wilson disease patients (Nemeth 2016, Tuan Pham 2017). The p.Asn1270Ser variant is reported in ClinVar (Variation ID: 3859), and is found in the general population with an overall allele frequency of 0.020% (55/280972 alleles, including a single homozygote) in the Genome Aggregation Database. Based on available information, the p.Asn1270Ser variant is considered to be pathogenic. References: Abuduxikuer K et al. Wilson disease with hepatic presentation in an eight-month-old boy. World J Gastroenterol. 2015 Aug 7;21(29):8981-4. PMID: 26269689. Barada K et al. Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease. J Clin Gastroenterol. 2010 Jul;44(6):432-9. PMID: 20485189. Daneshjoo O and Garshasbi M. Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report. J Med Case Rep. 2018 Mar 15;12(1):68. PMID: 29540233. Guggilla SR et al. Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. Gene. 2015 Sep 10;569(1):83-7. PMID: 25982861. Hua R et al. Mutational analysis of ATP7B in Chinese Wilson disease patients. Am J Transl Res. 2016 Jun 15;8(6):2851-61. PMID: 27398169. Huster D et al. Diverse functional properties of Wilson disease ATP7B variants. Gastroenterology. 2012 Apr;142(4):947-956.e5. PMID: 22240481. Iida M et al. Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae. FEBS Lett. 1998 May 29;428(3):281-5. PMID: 9654149. Nemeth D et al. Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease. Gastroenterol Res Pract. 2016;2016:4548039. PMID: 26819605. Tanzi RE et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. 1993 Dec;5(4):344-50. PMID: 8298641. Todorov T et al. Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. Clin Genet. 2005 Nov;68(5):474-6. PMID: 16207219. Tuan Pham LA et al. Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B. J Genet. 2017 Dec;96(6):933-939. PMID: 29321352. (less)
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Pathogenic
(Nov 03, 2023)
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criteria provided, single submitter
Method: clinical testing
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ATP7B-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004726765.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The ATP7B c.3809A>G variant is predicted to result in the amino acid substitution p.Asn1270Ser. This variant has been repeatedly documented as causative for Wilson disease … (more)
The ATP7B c.3809A>G variant is predicted to result in the amino acid substitution p.Asn1270Ser. This variant has been repeatedly documented as causative for Wilson disease (Tanzi et al. 1993. PubMed ID: 8298641; Yoo et al. 2002. PubMed ID: 12544487; Zhang et al. 2013. PubMed ID: 23235335). Functional studies suggest that this variant alters normal protein function (Table S1, Schushan et al. 2012. PubMed ID: 22692182). In summary, we interpret this variant as pathogenic. (less)
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Pathogenic
(Apr 01, 2009)
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no assertion criteria provided
Method: literature only
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WILSON DISEASE
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000024229.2
First in ClinVar: Apr 04, 2013 Last updated: May 08, 2015 |
Comment on evidence:
Thomas et al. (1995) identified the asn1270-to-ser (N1270S) mutation, which they referred to as asn1271-to-ser (N1271S), in an Italian patient with Wilson disease (277900). This … (more)
Thomas et al. (1995) identified the asn1270-to-ser (N1270S) mutation, which they referred to as asn1271-to-ser (N1271S), in an Italian patient with Wilson disease (277900). This mutation was found to account for 61% of all mutations in Costa Rican patients and 4.9% in Japanese patients (Okada et al., 2000; Shah et al., 1997). Yoo (2002) found this mutation in 12.1% of Korean patients with Wilson disease. In most cases it was found in compound heterozygosity with the R778L mutation (606882.0009). Park et al. (2009) found heterozygosity for the N1270S allele in 2 of 500 healthy Korean individuals, yielding a carrier frequency of 0.2% in this population. (less)
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Pathogenic
(Jun 01, 2014)
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no assertion criteria provided
Method: research
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Wilson disease
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190069.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014 |
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Wilson disease
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001455581.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions. | Chen YC | Parkinsonism & related disorders | 2019 | PMID: 30655162 |
Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report. | Daneshjoo O | Journal of medical case reports | 2018 | PMID: 29540233 |
Mutational analysis of ATP7B in Chinese Wilson disease patients. | Hua R | American journal of translational research | 2016 | PMID: 27398169 |
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. | Dong Y | Theranostics | 2016 | PMID: 27022412 |
Wilson disease with hepatic presentation in an eight-month-old boy. | Abuduxikuer K | World journal of gastroenterology | 2015 | PMID: 26269689 |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. | Guggilla SR | Gene | 2015 | PMID: 25982861 |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Amendola LM | Genome research | 2015 | PMID: 25637381 |
A genetic study of Wilson's disease in the United Kingdom. | Coffey AJ | Brain : a journal of neurology | 2013 | PMID: 23518715 |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease. | Li K | Journal of human genetics | 2013 | PMID: 23235335 |
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. | Schushan M | Metallomics : integrated biometal science | 2012 | PMID: 22692182 |
Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. | Bost M | Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) | 2012 | PMID: 22677543 |
Diverse functional properties of Wilson disease ATP7B variants. | Huster D | Gastroenterology | 2012 | PMID: 22240481 |
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease. | Zali N | Hepatitis monthly | 2011 | PMID: 22308153 |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. | Wan L | Hepatology (Baltimore, Md.) | 2010 | PMID: 20931554 |
Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease. | Barada K | Journal of clinical gastroenterology | 2010 | PMID: 20485189 |
Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population. | Park HD | Clinical genetics | 2009 | PMID: 19419418 |
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. | Abdelghaffar TY | Journal of human genetics | 2008 | PMID: 18483695 |
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. | Park S | Human mutation | 2007 | PMID: 17587212 |
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. | Deguti MM | Human mutation | 2004 | PMID: 15024742 |
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 |
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. | Okada T | Human mutation | 2000 | PMID: 10790207 |
Mutation analysis of Wilson disease in Taiwan and description of six new mutations. | Tsai CH | Human mutation | 1998 | PMID: 9829905 |
Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae. | Iida M | FEBS letters | 1998 | PMID: 9654149 |
Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. | Yamaguchi A | Human mutation | 1998 | PMID: 9452121 |
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. | Shah AB | American journal of human genetics | 1997 | PMID: 9311736 |
The Wilson disease gene: spectrum of mutations and their consequences. | Thomas GR | Nature genetics | 1995 | PMID: 7626145 |
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. | Tanzi RE | Nature genetics | 1993 | PMID: 8298641 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ATP7B | - | - | - | - |
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Text-mined citations for rs121907990 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.