NM_000052.7(ATP7A):c.1856dup (p.His620fs) AND Menkes kinky-hair syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 6, 2016
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:: RCV003312893.1

Allele description [Variation Report for NM_000052.7(ATP7A):c.1856dup (p.His620fs)]

NM_000052.7(ATP7A):c.1856dup (p.His620fs)

Gene:

ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq21.1

Genomic location:

Preferred name:

NM_000052.7(ATP7A):c.1856dup (p.His620fs)

HGVS:

NC_000023.11:g.78009250dup
NG_013224.2:g.103554dup
NM_000052.7:c.1856dupMANE SELECT
NM_001282224.2:c.1856dup
NP_000043.4:p.His620fs
NP_001269153.1:p.His620fs
NC_000023.10:g.77264747dup
NM_000052.6:c.1856dupT

Protein change:

H620fs

Molecular consequence:

NM_000052.7:c.1856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282224.2:c.1856dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004011879	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (Jan 6, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004011879

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(Jan 6, 2016)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.

Abel A, Fonknechten N, Hofer A, Dürr A, Cruaud C, Voit T, Weissenbach J, Brice A, Klimpe S, Auburger G, Hazan J.

Neurogenetics. 2004 Dec;5(4):239-43. Epub 2004 Oct 28.

PubMed [citation]

PMID:: 15517445

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004011879.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Jul 16, 2023

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