Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Aug 31, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000092390.6
Variation ID:
92390
Description:
single nucleotide variant
Help

NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)

Allele ID
98301
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.3
Genomic location
13: 51974592 (GRCh38) GRCh38 UCSC
13: 52548728 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.52548728T>C
NC_000013.11:g.51974592T>C
NG_008806.1:g.41903A>G
... more HGVS
Protein change
I210V
Other names
-
Canonical SPDI
NC_000013.11:51974591:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00062
Trans-Omics for Precision Medicine (TOPMed) 0.00189
1000 Genomes Project 0.00240
The Genome Aggregation Database (gnomAD), exomes 0.00047
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00196
The Genome Aggregation Database (gnomAD) 0.00188
Links
ClinGen: CA220311
dbSNP: rs61733680
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Oct 11, 2016 RCV000436240.5
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 2, 2020 RCV001001253.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP7B - - GRCh38
GRCh37
1311 1374

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 15, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694469.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The ATP7B c.628A>G (p.Ile210Val) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome (SNPs&GO not captured … (more)
Likely benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
Invitae
Accession: SCV000626867.5
Submitted: (Jan 07, 2021)
Evidence details
Likely Benign
(Oct 11, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000510651.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Uncertain significance
(Feb 26, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000109893.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Apr 25, 2019)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001158422.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The ATP7B c.628A>G; p.Ile210Val variant (rs61733680), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 92390). This … (more)
Likely benign
(Jun 22, 2021)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001812199.1
Submitted: (Aug 31, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ATP7B - - - -

Text-mined citations for rs61733680...

Help
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 Sep 18, 2021