NM_000053.4(ATP7B):c.2227del (p.Tyr743fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 25, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001509444.1

Allele description [Variation Report for NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)]

NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)

Gene:
ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)
HGVS:
  • NC_000013.11:g.51958441del
  • NG_008806.1:g.58056del
  • NM_000053.4:c.2227delMANE SELECT
  • NM_001005918.3:c.1870-832del
  • NM_001243182.1:c.1894del
  • NM_001330578.1:c.2122-832del
  • NM_001330579.2:c.1975del
  • NP_000044.2:p.Tyr743fs
  • NP_001230111.1:p.Tyr632fs
  • NP_001317508.1:p.Tyr659fs
  • NC_000013.10:g.52532575del
  • NC_000013.10:g.52532577del
  • NM_000053.3:c.2227del
  • NM_000053.3:c.2227delT
  • p.Tyr743Ilefs*19
Protein change:
Y632fs
Links:
Molecular consequence:
  • NM_000053.4:c.2227del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001243182.1:c.1894del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330579.2:c.1975del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001005918.3:c.1870-832del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330578.1:c.2122-832del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001716170Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Pathogenic
(Mar 25, 2021)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Aggarwal A, Chandhok G, Todorov T, Parekh S, Tilve S, Zibert A, Bhatt M, Schmidt HH.

Ann Hum Genet. 2013 Jul;77(4):299-307. doi: 10.1111/ahg.12024. Epub 2013 Apr 2.

PubMed [citation]
PMID:
23551039

Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

Liu G, Ma D, Cheng J, Zhang J, Luo C, Sun Y, Hu P, Wang Y, Jiang T, Xu Z.

BMC Med Genet. 2018 Apr 12;19(1):61. doi: 10.1186/s12881-018-0567-z.

PubMed [citation]
PMID:
29649982
PMCID:
PMC5898064
See all PubMed Citations (4)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001716170.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

PVS1, PM2, PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

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