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NM_007126.5(VCP):c.1293C>T (p.Asp431=) AND Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

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:
RCV001168927.4

Allele description [Variation Report for NM_007126.5(VCP):c.1293C>T (p.Asp431=)]

NM_007126.5(VCP):c.1293C>T (p.Asp431=)

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.1293C>T (p.Asp431=)
HGVS:
  • NC_000009.12:g.35061081G>A
  • NG_007887.1:g.16662C>T
  • NM_001354927.2:c.1158C>T
  • NM_001354928.2:c.1158C>T
  • NM_007126.5:c.1293C>TMANE SELECT
  • NP_001341856.1:p.Asp386=
  • NP_001341857.1:p.Asp386=
  • NP_009057.1:p.Asp431=
  • LRG_657t1:c.1293C>T
  • LRG_657:g.16662C>T
  • NC_000009.11:g.35061078G>A
  • NM_007126.3:c.1293C>T
...more
Links:
dbSNP: rs1828712869
NCBI 1000 Genomes Browser:
rs1828712869
Molecular consequence:
  • NM_001354927.2:c.1158C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354928.2:c.1158C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007126.5:c.1293C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001331566Illumina 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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