ClinVar Genomic variation as it relates to human health
NM_000052.7(ATP7A):c.1947-3_1948dup
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ATP7A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1944 | 2132 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 2003 | RCV000012556.17 | |
Uncertain significance (1) |
|
Jan 6, 2016 | RCV003311657.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 17, 2023
NCBI staff provided HGVS expressions for allelic variant 300011.0010 from these descriptions: (1) "...IVS8,AS,dup5, indicating the location of the duplication at the acceptor site (AS) of intron 8 (IVS8) from Kaler et al., 1996 (PubMed 8812725) and (2) "Sequencing of the patient's genomic DNA revealed a direct duplication of five bases (ATAAG) at the splice acceptor site preceding a 226-bp exon." from Das et al., 1994 (PubMed 7977350). The 226 bp exon corresponds to NG_013224.2:exon 9.