NM_000052.7(ATP7A):c.3801+4A>G AND Menkes kinky-hair syndrome

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Feb 8, 2013
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:: RCV000193334.7

Allele description [Variation Report for NM_000052.7(ATP7A):c.3801+4A>G]

NM_000052.7(ATP7A):c.3801+4A>G

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.3801+4A>G

HGVS:

NC_000023.11:g.78040737A>G
NG_013224.2:g.135041A>G
NM_000052.6:c.3801+4A>G
NM_000052.7:c.3801+4A>GMANE SELECT
NM_001282224.2:c.3567+4A>G
NC_000023.10:g.77296235A>G
NM_000052.4:c.3801+4A>G

Links:

dbSNP: rs797045387

NCBI 1000 Genomes Browser:

rs797045387

Molecular consequence:

NM_000052.7:c.3801+4A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001282224.2:c.3567+4A>G - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

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Kluyveromyces lactis 40S ribosomal protein S29 (KLLA0_E05127g), partial mRNA
Kluyveromyces lactis 40S ribosomal protein S29 (KLLA0_E05127g), partial mRNA
gi|50308348|ref|XM_454176.1|

Nucleotide
cytochrome b, partial (mitochondrion) [Corvus caurinus]
cytochrome b, partial (mitochondrion) [Corvus caurinus]
gi|124361600|gb|ABN09242.1|

Protein
Myotis brandtii unplaced genomic scaffold C39377640, whole genome shotgun sequen...
Myotis brandtii unplaced genomic scaffold C39377640, whole genome shotgun sequence
gi|517035779|gnl|WGS:ANKR01|C393776 |KE166461.1|

Nucleotide
Homo sapiens immunoglobulin heavy constant gamma 1 (G1m marker), mRNA (cDNA clon...
Homo sapiens immunoglobulin heavy constant gamma 1 (G1m marker), mRNA (cDNA clone IMAGE:4850078)
gi|15779221|gb|BC014667.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000246720	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Likely pathogenic (Feb 8, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004011827	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

SCV000246720

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Likely pathogenic
(Feb 8, 2013)

germline

clinical testing

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

SCV004011827

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	clinical testing, literature only

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Metabolic and molecular bases of Menkes disease and occipital horn syndrome.

Kaler SG.

Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98. Review.

PubMed [citation]

PMID:: 10463276

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000246720.1

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

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004011827.1

#	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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