U.S. flag

An official website of the United States government

NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) AND Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 16, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000201935.1

Allele description [Variation Report for NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)]

NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)

Gene:
VCP:valosin containing protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)
HGVS:
  • NC_000009.12:g.35067922T>A
  • NG_007887.1:g.9821A>T
  • NM_001354927.2:c.136A>T
  • NM_001354928.2:c.136A>T
  • NM_007126.5:c.271A>TMANE SELECT
  • NP_001341856.1:p.Asn46Tyr
  • NP_001341857.1:p.Asn46Tyr
  • NP_009057.1:p.Asn91Tyr
  • LRG_657:g.9821A>T
  • NC_000009.11:g.35067919T>A
Protein change:
N46Y; ASN91TYR
Links:
OMIM: 601023.0012; dbSNP: rs863225291
NCBI 1000 Genomes Browser:
rs863225291
Molecular consequence:
  • NM_001354927.2:c.136A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354928.2:c.136A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007126.5:c.271A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Synonyms:
MULTISYSTEM PROTEINOPATHY 1; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1
Identifiers:
MONDO: MONDO:0008178; MedGen: C4551951; OMIM: 167320

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256873Mendelics
no assertion criteria provided
Likely pathogenic
(Sep 16, 2014) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.

Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE.

Nat Genet. 2004 Apr;36(4):377-81. Epub 2004 Mar 21.

PubMed [citation]
PMID:
15034582

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.

van der Zee J, Pirici D, Van Langenhove T, Engelborghs S, Vandenberghe R, Hoffmann M, Pusswald G, Van den Broeck M, Peeters K, Mattheijssens M, Martin JJ, De Deyn PP, Cruts M, Haubenberger D, Kumar-Singh S, Zimprich A, Van Broeckhoven C.

Neurology. 2009 Aug 25;73(8):626-32. doi: 10.1212/WNL.0b013e3181b389d9.

PubMed [citation]
PMID:
19704082

Details of each submission

From Mendelics, SCV000256873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024