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NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Oct 12, 2021)
Last evaluated:
Aug 10, 2021
Accession:
VCV000282915.3
Variation ID:
282915
Description:
1bp deletion
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NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)

Allele ID
267152
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
13q14.3
Genomic location
13: 51939086 (GRCh38) GRCh38 UCSC
13: 52513222 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.52513226del
NC_000013.11:g.51939090del
NG_008806.1:g.77409del
... more HGVS
Protein change
D1222fs, D1015fs, D1138fs, D1111fs, D1144fs
Other names
-
Canonical SPDI
NC_000013.11:51939085:CCCCC:CCCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10604343
dbSNP: rs886042519
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Aug 10, 2021 RCV000333158.4
Pathogenic 1 criteria provided, single submitter Aug 28, 2015 RCV000725177.1
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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
1325 1389

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000334658.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Aug 10, 2021)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001977241.1
Submitted: (Oct 12, 2021)
Evidence details
Likely pathogenic
(Feb 12, 2016)
no assertion criteria provided
Method: clinical testing
Wilson disease
Allele origin: unknown
Counsyl
Accession: SCV000485782.2
Submitted: (Aug 05, 2019)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ATP7B - - - -

Text-mined citations for rs886042519...

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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 Oct 30, 2021