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NM_000053.3(ATP7B):c.3895C>T (p.Leu1299Phe)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 5, 2017)
Last evaluated:
Jul 27, 2017
Accession:
VCV000189149.1
Variation ID:
189149
Description:
single nucleotide variant
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NM_000053.3(ATP7B):c.3895C>T (p.Leu1299Phe)

Allele ID
186875
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q14.3
Genomic location
13: 51937484 (GRCh38) GRCh38 UCSC
13: 52511620 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.52511620G>A
NC_000013.11:g.51937484G>A
NM_000053.3:c.3895C>T NP_000044.2:p.Leu1299Phe missense
NG_008806.1:g.79011C>T
Protein change
L1299F
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00005
Links
dbSNP: rs749472361
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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 Jul 27, 2017 RCV000169572.2
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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
587 639

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 22, 2015)
criteria provided, single submitter
Method: literature only
Wilson's disease
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000221072.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (3)
Pathogenic
(Jul 27, 2017)
criteria provided, single submitter
Method: clinical testing
Wilson disease
Allele origin: germline
Invitae
Accession: SCV000626861.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces leucine with phenylalanine at codon 1299 of the ATP7B protein (p.Leu1299Phe). The leucine residue is highly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. Mukherjee S Parkinsonism & related disorders 2014 PMID: 24094725
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
ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients. Santhosh S Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 2006 PMID: 17264425

Record last updated Mar 29, 2019