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NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 26, 2021)
Last evaluated:
Mar 25, 2021
Accession:
VCV000863481.4
Variation ID:
863481
Description:
1bp deletion
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NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)

Allele ID
840992
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
13q14.3
Genomic location
13: 51958439 (GRCh38) GRCh38 UCSC
13: 52532575 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.52532577del
NC_000013.11:g.51958441del
NM_000053.4:c.2227del MANE Select NP_000044.2:p.Tyr743fs frameshift
... more HGVS
Protein change
Y632fs, Y659fs, Y743fs
Other names
-
Canonical SPDI
NC_000013.11:51958438:AAA:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 2 criteria provided, multiple submitters, no conflicts Aug 24, 2020 RCV001070456.2
Pathogenic 1 criteria provided, single submitter Mar 25, 2021 RCV001509444.1
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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
1311 1374

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 24, 2020)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001431917.1
Submitted: (Sep 09, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: ATP7B c.2227delT (p.Tyr743IlefsX19) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Dec 20, 2019)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
Invitae
Accession: SCV001235688.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Tyr743Ilefs*19) in the ATP7B gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Mar 25, 2021)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001716170.1
Submitted: (May 26, 2021)
Evidence details
Publications
PubMed (3)
Comment:
PVS1, PM2, PP4

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
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. Singh N PloS one 2019 PMID: 31059521
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report. Liu G BMC medical genetics 2018 PMID: 29649982
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations. Aggarwal A Annals of human genetics 2013 PMID: 23551039
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Gromadzka G Clinical genetics 2005 PMID: 16283883
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. Buiakova OI Human molecular genetics 1999 PMID: 10441329

Record last updated Jun 14, 2021