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NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 6, 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:
RCV002312482.9

Allele description [Variation Report for NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly)]

NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly)

Gene:
ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly)
HGVS:
  • NC_000023.11:g.78011660T>G
  • NG_013224.2:g.105964T>G
  • NM_000052.7:c.2158T>GMANE SELECT
  • NM_001282224.2:c.2158T>G
  • NP_000043.4:p.Cys720Gly
  • NP_001269153.1:p.Cys720Gly
  • NC_000023.10:g.77267157T>G
  • NM_000052.4:c.2158T>G
Protein change:
C720G
Links:
dbSNP: rs1569549892
NCBI 1000 Genomes Browser:
rs1569549892
Molecular consequence:
  • NM_000052.7:c.2158T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282224.2:c.2158T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000847070Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 6, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000847070.5

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

Description

The p.C720G variant (also known as c.2158T>G), located in coding exon 8 of the ATP7A gene, results from a T to G substitution at nucleotide position 2158. The cysteine at codon 720 is replaced by glycine, an amino acid with highly dissimilar properties. 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 6499 samples with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: Nov 3, 2024