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NM_007126.5(VCP):c.185A>G (p.Lys62Arg) AND Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 2018
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:
RCV000396114.5

Allele description [Variation Report for NM_007126.5(VCP):c.185A>G (p.Lys62Arg)]

NM_007126.5(VCP):c.185A>G (p.Lys62Arg)

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.185A>G (p.Lys62Arg)
HGVS:
  • NC_000009.12:g.35068008T>C
  • NG_007887.1:g.9735A>G
  • NM_001354927.2:c.50A>G
  • NM_001354928.2:c.50A>G
  • NM_007126.5:c.185A>GMANE SELECT
  • NP_001341856.1:p.Lys17Arg
  • NP_001341857.1:p.Lys17Arg
  • NP_009057.1:p.Lys62Arg
  • LRG_657t1:c.185A>G
  • LRG_657:g.9735A>G
  • NC_000009.11:g.35068005T>C
  • NM_007126.3:c.185A>G
...more
Protein change:
K17R
Links:
dbSNP: rs886063892
NCBI 1000 Genomes Browser:
rs886063892
Molecular consequence:
  • NM_001354927.2:c.50A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354928.2:c.50A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007126.5:c.185A>G - 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
SCV000479822Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Uncertain significance
(Jan 13, 2018)
germlineclinical testing

Citation Link

Last Updated: Aug 5, 2023

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