NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs) AND Menkes kinky-hair syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 28, 2019
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:: RCV000990881.1

Allele description [Variation Report for NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs)]

NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs)

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.2836_2837del (p.Val946fs)

HGVS:

NC_000023.11:g.78020999_78021000del
NG_013224.2:g.115303_115304del
NM_000052.7:c.2836_2837delMANE SELECT
NM_001282224.2:c.2602_2603del
NP_000043.4:p.Val946fs
NP_001269153.1:p.Val868fs
NC_000023.10:g.77276495_77276496delTG
NC_000023.10:g.77276496_77276497del

Protein change:

V868fs

Links:

dbSNP: rs1603387278

NCBI 1000 Genomes Browser:

rs1603387278

Molecular consequence:

NM_000052.7:c.2836_2837del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001282224.2:c.2602_2603del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001141933	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001141933

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141933.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 11, 2022

ClinVar

Relating variation to medicine