U.S. flag

An official website of the United States government

NM_007126.5(VCP):c.30T>A (p.Asp10Glu) AND Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 10, 2019
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV001198195.2

Allele description [Variation Report for NM_007126.5(VCP):c.30T>A (p.Asp10Glu)]

NM_007126.5(VCP):c.30T>A (p.Asp10Glu)

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.30T>A (p.Asp10Glu)
HGVS:
  • NC_000009.12:g.35068350A>T
  • NG_007887.1:g.9393T>A
  • NM_001354927.2:c.-106T>A
  • NM_001354928.2:c.-106T>A
  • NM_007126.5:c.30T>AMANE SELECT
  • NP_009057.1:p.Asp10Glu
  • LRG_657t1:c.30T>A
  • LRG_657:g.9393T>A
  • NC_000009.11:g.35068347A>T
  • NM_007126.3:c.30T>A
...more
Protein change:
D10E
Links:
dbSNP: rs1828874096
NCBI 1000 Genomes Browser:
rs1828874096
Molecular consequence:
  • NM_001354927.2:c.-106T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354928.2:c.-106T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_007126.5:c.30T>A - 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

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001369065Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jun 10, 2019)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Last Updated: Dec 17, 2022

External link. Please review our privacy policy.