NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu) AND Wilson disease

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003233350.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu)]

NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu)

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.2668G>T (p.Val890Leu)

HGVS:

NC_000013.11:g.51950069C>A
NG_008806.1:g.66426G>T
NM_000053.4:c.2668G>TMANE SELECT
NM_001005918.3:c.2182G>T
NM_001243182.2:c.2335G>T
NM_001330578.2:c.2434G>T
NM_001330579.2:c.2416G>T
NM_001406511.1:c.2668G>T
NM_001406512.1:c.2668G>T
NM_001406513.1:c.2668G>T
NM_001406514.1:c.2635G>T
NM_001406515.1:c.2668G>T
NM_001406516.1:c.2668G>T
NM_001406517.1:c.2572G>T
NM_001406518.1:c.2572G>T
NM_001406519.1:c.2668G>T
NM_001406520.1:c.2524G>T
NM_001406521.1:c.2524G>T
NM_001406522.1:c.2524G>T
NM_001406523.1:c.2668G>T
NM_001406524.1:c.2491G>T
NM_001406525.1:c.2668G>T
NM_001406526.1:c.2668G>T
NM_001406527.1:c.2434G>T
NM_001406528.1:c.2434G>T
NM_001406530.1:c.2428G>T
NM_001406531.1:c.2416G>T
NM_001406532.1:c.2416G>T
NM_001406534.1:c.2434G>T
NM_001406535.1:c.2668G>T
NM_001406536.1:c.2338G>T
NM_001406537.1:c.2524G>T
NM_001406538.1:c.2434G>T
NM_001406539.1:c.2239G>T
NM_001406540.1:c.2416G>T
NM_001406541.1:c.2182G>T
NM_001406542.1:c.2182G>T
NM_001406543.1:c.2320G>T
NM_001406544.1:c.2086G>T
NM_001406545.1:c.2020G>T
NM_001406546.1:c.2182G>T
NM_001406547.1:c.2020G>T
NM_001406548.1:c.1378G>T
NP_000044.2:p.Val890Leu
NP_001005918.1:p.Val728Leu
NP_001230111.1:p.Val779Leu
NP_001317507.1:p.Val812Leu
NP_001317508.1:p.Val806Leu
NP_001393440.1:p.Val890Leu
NP_001393441.1:p.Val890Leu
NP_001393442.1:p.Val890Leu
NP_001393443.1:p.Val879Leu
NP_001393444.1:p.Val890Leu
NP_001393445.1:p.Val890Leu
NP_001393446.1:p.Val858Leu
NP_001393447.1:p.Val858Leu
NP_001393448.1:p.Val890Leu
NP_001393449.1:p.Val842Leu
NP_001393450.1:p.Val842Leu
NP_001393451.1:p.Val842Leu
NP_001393452.1:p.Val890Leu
NP_001393453.1:p.Val831Leu
NP_001393454.1:p.Val890Leu
NP_001393455.1:p.Val890Leu
NP_001393456.1:p.Val812Leu
NP_001393457.1:p.Val812Leu
NP_001393459.1:p.Val810Leu
NP_001393460.1:p.Val806Leu
NP_001393461.1:p.Val806Leu
NP_001393463.1:p.Val812Leu
NP_001393464.1:p.Val890Leu
NP_001393465.1:p.Val780Leu
NP_001393466.1:p.Val842Leu
NP_001393467.1:p.Val812Leu
NP_001393468.1:p.Val747Leu
NP_001393469.1:p.Val806Leu
NP_001393470.1:p.Val728Leu
NP_001393471.1:p.Val728Leu
NP_001393472.1:p.Val774Leu
NP_001393473.1:p.Val696Leu
NP_001393474.1:p.Val674Leu
NP_001393475.1:p.Val728Leu
NP_001393476.1:p.Val674Leu
NP_001393477.1:p.Val460Leu
NC_000013.10:g.52524205C>A

Protein change:

V460L

Molecular consequence:

NM_000053.4:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001005918.3:c.2182G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001243182.2:c.2335G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330578.2:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330579.2:c.2416G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406511.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406512.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406513.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406514.1:c.2635G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406515.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406516.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406517.1:c.2572G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406518.1:c.2572G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406519.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406520.1:c.2524G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406521.1:c.2524G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406522.1:c.2524G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406523.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406524.1:c.2491G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406525.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406526.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406527.1:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406528.1:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406530.1:c.2428G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406531.1:c.2416G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406532.1:c.2416G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406534.1:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406535.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406536.1:c.2338G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406537.1:c.2524G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406538.1:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406539.1:c.2239G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406540.1:c.2416G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406541.1:c.2182G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406542.1:c.2182G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406543.1:c.2320G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406544.1:c.2086G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406545.1:c.2020G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406546.1:c.2182G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406547.1:c.2020G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001406548.1:c.1378G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Wilson disease (WND)
Synonyms:: Wilson's disease; Hepatolenticular degeneration
Identifiers:: MONDO: MONDO:0010200; MedGen: C0019202; Orphanet: 905; OMIM: 277900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003930443	Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	biparental	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003930443

Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

biparental

clinical testing

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	biparental	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV003930443.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	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	biparental	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 24, 2023

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