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NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Aug 15, 2016
Accession:
VCV000371270.1
Variation ID:
371270
Description:
2bp insertion
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NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs)

Allele ID
358238
Variant type
Insertion
Variant length
2 bp
Cytogenetic location
13q14.3
Genomic location
13: 51970697-51970698 (GRCh38) GRCh38 UCSC
13: 52544833-52544834 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.52544834_52544835insAA
NC_000013.11:g.51970698_51970699insAA
NG_008806.1:g.45797_45798insTT
... more HGVS
Protein change
Q336fs, Q447fs
Other names
-
Canonical SPDI
NC_000013.11:51970697:A:AAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041680
dbSNP: rs1057517141
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 15, 2016 RCV000412459.1
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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
Likely pathogenic
(Aug 15, 2016)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: unknown
Counsyl
Accession: SCV000486810.1
Submitted: (Nov 23, 2016)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1057517141...

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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