NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 2016
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:: RCV000443197.1

Allele description [Variation Report for NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)]

NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)

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.1802C>A (p.Thr601Asn)

HGVS:

NC_000023.11:g.78009196C>A
NG_013224.2:g.103500C>A
NM_000052.7:c.1802C>AMANE SELECT
NM_001282224.2:c.1802C>A
NP_000043.4:p.Thr601Asn
NP_001269153.1:p.Thr601Asn
NC_000023.10:g.77264693C>A
NM_000052.4:c.1802C>A
NM_000052.6:c.1802C>A

Protein change:

T601N

Links:

dbSNP: rs371777895

NCBI 1000 Genomes Browser:

rs371777895

Molecular consequence:

NM_000052.7:c.1802C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282224.2:c.1802C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000530858	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Aug 11, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000530858

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Aug 11, 2016)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000530858.3

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

Description

A variant of uncertain significance has been identified in the ATP7A gene. The T601N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T601N variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, the T601N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	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: Sep 29, 2024

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