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NM_007126.5(VCP):c.2214A>G (p.Glu738=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 11, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002426834.2

Allele description [Variation Report for NM_007126.5(VCP):c.2214A>G (p.Glu738=)]

NM_007126.5(VCP):c.2214A>G (p.Glu738=)

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.2214A>G (p.Glu738=)
HGVS:
  • NC_000009.12:g.35057477T>C
  • NG_007887.1:g.20266A>G
  • NM_001354927.2:c.2079A>G
  • NM_001354928.2:c.2079A>G
  • NM_007126.5:c.2214A>GMANE SELECT
  • NP_001341856.1:p.Glu693=
  • NP_001341857.1:p.Glu693=
  • NP_009057.1:p.Glu738=
  • LRG_657t1:c.2214A>G
  • LRG_657:g.20266A>G
  • NC_000009.11:g.35057474T>C
  • NM_007126.3:c.2214A>G
Links:
dbSNP: rs374391034
NCBI 1000 Genomes Browser:
rs374391034
Molecular consequence:
  • NM_001354927.2:c.2079A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354928.2:c.2079A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007126.5:c.2214A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002730833Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 11, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002730833.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024