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NM_000052.7(ATP7A):c.3295-6del AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 19, 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:
RCV000505956.8

Allele description [Variation Report for NM_000052.7(ATP7A):c.3295-6del]

NM_000052.7(ATP7A):c.3295-6del

Gene:
ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000052.7(ATP7A):c.3295-6del
HGVS:
  • NC_000023.11:g.78033599del
  • NG_013224.2:g.127903del
  • NM_000052.7:c.3295-6delMANE SELECT
  • NM_001282224.2:c.3061-6del
  • NC_000023.10:g.77289095del
  • NC_000023.10:g.77289097del
Links:
dbSNP: rs1557237411
NCBI 1000 Genomes Browser:
rs1557237411
Molecular consequence:
  • NM_000052.7:c.3295-6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282224.2:c.3061-6del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000602579ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely benign
(Sep 19, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602579.1

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

Last Updated: Sep 29, 2024