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NM_007126.5(VCP):c.766C>G (p.Arg256Gly) AND Childhood Onset VCP-related Neurodevelopmental Disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 1, 2023
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:
RCV003333707.2

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]
Observations:
1

Condition(s)

Name:
Childhood Onset VCP-related Neurodevelopmental Disorder
Identifiers:

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004041577The Division of Genetics and Genomic Medicine, Washington University School of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Sep 1, 2023)
de novoclinical testing

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

Last Updated: Mar 10, 2024

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