NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 5, 2021
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:: RCV001751521.2

Allele description [Variation Report for NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)]

NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)

Gene:

ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.3

Genomic location:

Preferred name:

NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)

HGVS:

NC_000013.11:g.51941086A>G
NG_008806.1:g.75409T>C
NM_000053.4:c.3551T>CMANE SELECT
NM_001005918.3:c.2930T>C
NM_001243182.2:c.3218T>C
NM_001330578.2:c.3317T>C
NM_001330579.2:c.3299T>C
NP_000044.2:p.Ile1184Thr
NP_001005918.1:p.Ile977Thr
NP_001230111.1:p.Ile1073Thr
NP_001317507.1:p.Ile1106Thr
NP_001317508.1:p.Ile1100Thr
NC_000013.10:g.52515222A>G
NM_000053.3:c.3551T>C
NM_001005918.3:c.2930T>C

Protein change:

I1073T

Links:

dbSNP: rs755817220

NCBI 1000 Genomes Browser:

rs755817220

Molecular consequence:

NM_000053.4:c.3551T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001005918.3:c.2930T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001243182.2:c.3218T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330578.2:c.3317T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001330579.2:c.3299T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001985440	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 5, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001985440

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 5, 2021)

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, SCV001985440.2

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

Description

Observed in cis with the I381S variant and in trans with a frameshift variant in an individual with Wilson disease (Coffey et al., 2013); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22692182, 23518715, 33223529, 32770663)

#	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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