NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 16, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001274025.4

Allele description [Variation Report for NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)]

NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)

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.2383C>T (p.Arg795Ter)

HGVS:

NC_000023.11:g.78013089C>T
NG_013224.2:g.107393C>T
NM_000052.7:c.2383C>TMANE SELECT
NM_001282224.2:c.2172+1415C>T
NP_000043.4:p.Arg795Ter
NC_000023.10:g.77268586C>T
NM_000052.4:c.2383C>T
NM_000052.6:c.2383C>T

Protein change:

R795*

Links:

dbSNP: rs72554645

NCBI 1000 Genomes Browser:

rs72554645

Molecular consequence:

NM_001282224.2:c.2172+1415C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000052.7:c.2383C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001457712	Natera, Inc.	no assertion criteria provided	Pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001457712

Natera, Inc.

no assertion criteria provided

Pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV001457712.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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