NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) AND not specified

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Oct 3, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000174213.6

Allele description [Variation Report for NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)]

NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)

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.2785A>G (p.Ile929Val)

HGVS:

NC_000013.11:g.51949742T>C
NG_008806.1:g.66753A>G
NM_000053.4:c.2785A>GMANE SELECT
NM_001005918.3:c.2244+265A>G
NM_001243182.2:c.2452A>G
NM_001330578.2:c.2551A>G
NM_001330579.2:c.2533A>G
NP_000044.2:p.Ile929Val
NP_001230111.1:p.Ile818Val
NP_001317507.1:p.Ile851Val
NP_001317508.1:p.Ile845Val
NC_000013.10:g.52523878T>C
NM_000053.2:c.2785A>G
NM_000053.3:c.2785A>G
P35670:p.Ile929Val

Protein change:

I818V

Links:

UniProtKB: P35670#VAR_076741; dbSNP: rs534960245

NCBI 1000 Genomes Browser:

rs534960245

Molecular consequence:

NM_001005918.3:c.2244+265A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000053.4:c.2785A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001243182.2:c.2452A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330578.2:c.2551A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330579.2:c.2533A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000225476	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Feb 23, 2015)	germline	clinical testing	Citation Link,
SCV000730409	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Oct 3, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000225476

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Feb 23, 2015)

germline

clinical testing

Citation Link,

SCV000730409

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Oct 3, 2017)

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	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000225476.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From GeneDx, SCV000730409.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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: Oct 13, 2024

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