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NM_007126.5(VCP):c.766C>G (p.Arg256Gly) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003883215.1

Allele description [Variation Report for NM_007126.5(VCP):c.766C>G (p.Arg256Gly)]

NM_007126.5(VCP):c.766C>G (p.Arg256Gly)

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.766C>G (p.Arg256Gly)
Other names:
NP_009057.1:p.Arg256Gly
HGVS:
  • NC_000009.12:g.35063023G>C
  • NG_007887.1:g.14720C>G
  • NM_001354927.2:c.631C>G
  • NM_001354928.2:c.631C>G
  • NM_007126.5:c.766C>GMANE SELECT
  • NP_001341856.1:p.Arg211Gly
  • NP_001341857.1:p.Arg211Gly
  • NP_009057.1:p.Arg256Gly
  • NP_009057.1:p.Arg256Gly
  • LRG_657t1:c.766C>G
  • LRG_657:g.14720C>G
  • LRG_657p1:p.Arg256Gly
  • NC_000009.11:g.35063020G>C
  • NM_007126.3:c.766C>G
  • NM_007126.3:c.766C>G
...more
Protein change:
R211G
Molecular consequence:
  • NM_001354927.2:c.631C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354928.2:c.631C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007126.5:c.766C>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
Name:
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6)
Synonyms:
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; VCP-Related Amyotrophic Lateral Sclerosis; VCP-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Identifiers:
MONDO: MONDO:0013501; MedGen: C5436279; Orphanet: 275872; Orphanet: 803; OMIM: 613954
Name:
Charcot-Marie-Tooth disease type 2Y
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y; Charcot-Marie-Tooth disease, axonal, type 2y
Identifiers:
MONDO: MONDO:0014735; MedGen: C5569026; Orphanet: 435387; OMIM: 616687

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004697744Molecular Genetics Lab, CHRU Brest
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenicde novoclinical testing

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

Last Updated: Mar 10, 2024

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