NM_000053.4(ATP7B):c.2241_2242insAG (p.Leu748fs) AND Wilson disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 6, 2023
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:: RCV003464953.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.2241_2242insAG (p.Leu748fs)]

NM_000053.4(ATP7B):c.2241_2242insAG (p.Leu748fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

13q14.3

Genomic location:

Preferred name:

NM_000053.4(ATP7B):c.2241_2242insAG (p.Leu748fs)

HGVS:

NC_000013.11:g.51958424_51958425insCT
NG_008806.1:g.58070_58071insAG
NM_000053.4:c.2241_2242insAGMANE SELECT
NM_001005918.3:c.1870-818_1870-817insAG
NM_001243182.2:c.1908_1909insAG
NM_001330578.2:c.2122-818_2122-817insAG
NM_001330579.2:c.1989_1990insAG
NM_001406511.1:c.2241_2242insAG
NM_001406512.1:c.2241_2242insAG
NM_001406513.1:c.2241_2242insAG
NM_001406514.1:c.2208_2209insAG
NM_001406515.1:c.2241_2242insAG
NM_001406516.1:c.2241_2242insAG
NM_001406517.1:c.2145_2146insAG
NM_001406518.1:c.2145_2146insAG
NM_001406519.1:c.2241_2242insAG
NM_001406520.1:c.2122-25_2122-24insAG
NM_001406521.1:c.2122-25_2122-24insAG
NM_001406522.1:c.2122-25_2122-24insAG
NM_001406523.1:c.2241_2242insAG
NM_001406524.1:c.2089-25_2089-24insAG
NM_001406525.1:c.2241_2242insAG
NM_001406526.1:c.2241_2242insAG
NM_001406527.1:c.2122-818_2122-817insAG
NM_001406528.1:c.2122-818_2122-817insAG
NM_001406530.1:c.2026-25_2026-24insAG
NM_001406531.1:c.1989_1990insAG
NM_001406532.1:c.1989_1990insAG
NM_001406534.1:c.2122-818_2122-817insAG
NM_001406535.1:c.2241_2242insAG
NM_001406536.1:c.2026-818_2026-817insAG
NM_001406537.1:c.2122-25_2122-24insAG
NM_001406538.1:c.2122-818_2122-817insAG
NM_001406539.1:c.1812_1813insAG
NM_001406540.1:c.1989_1990insAG
NM_001406541.1:c.1870-818_1870-817insAG
NM_001406542.1:c.1870-818_1870-817insAG
NM_001406543.1:c.1893_1894insAG
NM_001406544.1:c.1774-818_1774-817insAG
NM_001406545.1:c.1708-818_1708-817insAG
NM_001406546.1:c.1870-818_1870-817insAG
NM_001406547.1:c.1708-818_1708-817insAG
NM_001406548.1:c.1286-8264_1286-8263insAG
NP_000044.2:p.Leu748fs
NP_001230111.1:p.Leu637fs
NP_001317508.1:p.Leu664fs
NP_001393440.1:p.Leu748fs
NP_001393441.1:p.Leu748fs
NP_001393442.1:p.Leu748fs
NP_001393443.1:p.Leu737fs
NP_001393444.1:p.Leu748fs
NP_001393445.1:p.Leu748fs
NP_001393446.1:p.Leu716fs
NP_001393447.1:p.Leu716fs
NP_001393448.1:p.Leu748fs
NP_001393452.1:p.Leu748fs
NP_001393454.1:p.Leu748fs
NP_001393455.1:p.Leu748fs
NP_001393460.1:p.Leu664fs
NP_001393461.1:p.Leu664fs
NP_001393464.1:p.Leu748fs
NP_001393468.1:p.Leu605fs
NP_001393469.1:p.Leu664fs
NP_001393472.1:p.Leu632fs
NC_000013.10:g.52532560_52532561insCT

Protein change:

L605fs

Molecular consequence:

NM_000053.4:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001243182.2:c.1908_1909insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330579.2:c.1989_1990insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406511.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406512.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406513.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406514.1:c.2208_2209insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406515.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406516.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406517.1:c.2145_2146insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406518.1:c.2145_2146insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406519.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406523.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406525.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406526.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406531.1:c.1989_1990insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406532.1:c.1989_1990insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406535.1:c.2241_2242insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406539.1:c.1812_1813insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406540.1:c.1989_1990insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406543.1:c.1893_1894insAG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001005918.3:c.1870-818_1870-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001330578.2:c.2122-818_2122-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406520.1:c.2122-25_2122-24insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406521.1:c.2122-25_2122-24insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406522.1:c.2122-25_2122-24insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406524.1:c.2089-25_2089-24insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406527.1:c.2122-818_2122-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406528.1:c.2122-818_2122-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406530.1:c.2026-25_2026-24insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406534.1:c.2122-818_2122-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406536.1:c.2026-818_2026-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406537.1:c.2122-25_2122-24insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406538.1:c.2122-818_2122-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406541.1:c.1870-818_1870-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406542.1:c.1870-818_1870-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406544.1:c.1774-818_1774-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406545.1:c.1708-818_1708-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406546.1:c.1870-818_1870-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406547.1:c.1708-818_1708-817insAG - intron variant - [Sequence Ontology: SO:0001627]
NM_001406548.1:c.1286-8264_1286-8263insAG - intron variant - [Sequence Ontology: SO:0001627]

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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SRX24948429 (1)
SRA
Mus musculus G elongation factor, mitochondrial 2 (Gfm2), transcript variant 3, ...
Mus musculus G elongation factor, mitochondrial 2 (Gfm2), transcript variant 3, mRNA; nuclear gene for mitochondrial product
gi|407228372|ref|NM_001271463.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004216461	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 6, 2023)	unknown	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

SCV004216461

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 6, 2023)

unknown

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	unknown	unknown	not provided	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 Baylor Genetics, SCV004216461.1

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

Last Updated: Dec 30, 2023

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