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NM_000053.4(ATP7B):c.2355+4A>G AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2016
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:
RCV002442394.2

Allele description [Variation Report for NM_000053.4(ATP7B):c.2355+4A>G]

NM_000053.4(ATP7B):c.2355+4A>G

Gene:
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_000053.4(ATP7B):c.2355+4A>G
HGVS:
  • NC_000013.11:g.51958307T>C
  • NG_008806.1:g.58188A>G
  • NM_000053.4:c.2355+4A>GMANE SELECT
  • NM_001005918.3:c.1870-700A>G
  • NM_001243182.2:c.2022+4A>G
  • NM_001330578.2:c.2122-700A>G
  • NM_001330579.2:c.2103+4A>G
  • NC_000013.10:g.52532443T>C
  • NM_000053.3:c.2355+4A>G
Links:
dbSNP: rs776572343
NCBI 1000 Genomes Browser:
rs776572343
Molecular consequence:
  • NM_000053.4:c.2355+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005918.3:c.1870-700A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001243182.2:c.2022+4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330578.2:c.2122-700A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330579.2:c.2103+4A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002735651Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 8, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Davies LP, Macintyre G, Cox DW.

Genet Test. 2008 Mar;12(1):139-45. doi: 10.1089/gte.2007.0072.

PubMed [citation]
PMID:
18373411

Details of each submission

From Ambry Genetics, SCV002735651.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.2355+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 8 in the ATP7B gene. This variant was identified in one individual with biochemical testing suggestive of a diagnosis of Wilson disease; however, additional genotype and phenotype information were not provided (Davies LP, Genet. Test. 2008 Mar; 12(1):139-45). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6109 samples (12218 alleles) with coverage at this position. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Sep 29, 2024