U.S. flag

An official website of the United States government

NM_000053.4(ATP7B):c.802_808del (p.Cys268fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001008091.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)]

NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)

Gene:
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs)
HGVS:
  • NC_000013.11:g.51974413_51974419del
  • NG_008806.1:g.42077_42083del
  • NM_000053.4:c.802_808delMANE SELECT
  • NM_001005918.3:c.802_808del
  • NM_001243182.2:c.802_802+6del
  • NM_001330578.2:c.802_808del
  • NM_001330579.2:c.802_808del
  • NP_000044.2:p.Cys268fs
  • NP_001005918.1:p.Cys268fs
  • NP_001317507.1:p.Cys268fs
  • NP_001317508.1:p.Cys268fs
  • NC_000013.10:g.52548548_52548554del
  • NC_000013.10:g.52548549_52548555del
  • NM_000053.3:c.802_808delTGTAAGT
Protein change:
C268fs
Links:
dbSNP: rs1566598496
NCBI 1000 Genomes Browser:
rs1566598496
Molecular consequence:
  • NM_000053.4:c.802_808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001005918.3:c.802_808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330578.2:c.802_808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330579.2:c.802_808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243182.2:c.802_802+6del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167836GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Nov 30, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001167836.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.802_808delTGTAAGT variant in the ATP7B gene has been reported previously in the heterozygous state with a second ATP7B variant in a patient with Wilson disease (Haas et al., 1999). The c.802_808delTGTAAGT variant causes a frameshift starting with codon Cysteine 268, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Cys268LeufsX4. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.802_808delTGTAAGT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.802_808delTGTAAGT as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024