U.S. flag

An official website of the United States government

NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Oct 21, 2020
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:
RCV000235848.7

Allele description [Variation Report for NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)]

NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)

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.4066C>T (p.Arg1356Trp)
HGVS:
  • NC_000023.11:g.78043377C>T
  • NG_013224.2:g.137681C>T
  • NM_000052.7:c.4066C>TMANE SELECT
  • NM_001282224.2:c.3832C>T
  • NP_000043.4:p.Arg1356Trp
  • NP_001269153.1:p.Arg1278Trp
  • NC_000023.10:g.77298875C>T
  • NM_000052.4:c.4066C>T
  • NM_000052.6:c.4066C>T
  • NR_104109.2:n.1239C>T
Protein change:
R1278W
Links:
dbSNP: rs370736173
NCBI 1000 Genomes Browser:
rs370736173
Molecular consequence:
  • NM_000052.7:c.4066C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282224.2:c.3832C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104109.2:n.1239C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292881GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Oct 21, 2020)
germlineclinical testing

Citation Link,

SCV001798463Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV001976065Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000292881.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798463.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001976065.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024