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NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 4, 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:
RCV002306848.2

Allele description [Variation Report for NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)]

NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)

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.1768A>T (p.Arg590Ter)
HGVS:
  • NC_000023.11:g.78009162A>T
  • NG_013224.2:g.103466A>T
  • NM_000052.7:c.1768A>TMANE SELECT
  • NM_001282224.2:c.1768A>T
  • NP_000043.4:p.Arg590Ter
  • NP_001269153.1:p.Arg590Ter
  • NC_000023.10:g.77264659A>T
Protein change:
R590*
Molecular consequence:
  • NM_000052.7:c.1768A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282224.2:c.1768A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Menkes kinky-hair syndrome (MNK)
Synonyms:
Kinky hair disease; Copper transport disease; Menkes Disease
Identifiers:
MONDO: MONDO:0010651; MedGen: C0022716; Orphanet: 565; OMIM: 309400
Name:
Cutis laxa, X-linked (OHS)
Synonyms:
EDS IX; Occipital horn syndrome; Ehlers-Danlos syndrome, occipital horn type (formerly); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010572; MedGen: C0268353; Orphanet: 198; OMIM: 304150
Name:
X-linked distal spinal muscular atrophy type 3
Synonyms:
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE; NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED
Identifiers:
MONDO: MONDO:0010338; MedGen: C1845359; Orphanet: 139557; OMIM: 300489

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603939Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Apr 4, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603939.2

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

Description

NM_000052.5(ATP7A):c.1768A>T(R590*) is expected to be pathogenic in the context of ATP7A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ATP7A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Oct 21, 2023