U.S. flag

An official website of the United States government

NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2022
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:
RCV002432667.2

Allele description [Variation Report for NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)]

NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)

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.2167G>C (p.Val723Leu)
HGVS:
  • NC_000023.11:g.78011669G>C
  • NG_013224.2:g.105973G>C
  • NM_000052.7:c.2167G>CMANE SELECT
  • NM_001282224.2:c.2167G>C
  • NP_000043.4:p.Val723Leu
  • NP_001269153.1:p.Val723Leu
  • NC_000023.10:g.77267166G>C
  • NM_000052.4:c.2167G>C
Protein change:
V723L
Molecular consequence:
  • NM_000052.7:c.2167G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282224.2:c.2167G>C - 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
SCV002729212Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 26, 2022) 		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, SCV002729212.2

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

Description

The p.V723L variant (also known as c.2167G>C), located in coding exon 8 of the ATP7A gene, results from a G to C substitution at nucleotide position 2167. The valine at codon 723 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. 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 alteration remains unclear.

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

Last Updated: Sep 29, 2024