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NM_012073.5(CCT5):c.440A>G (p.His147Arg) AND CCT5-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003952334.2

Allele description [Variation Report for NM_012073.5(CCT5):c.440A>G (p.His147Arg)]

NM_012073.5(CCT5):c.440A>G (p.His147Arg)

Gene:
CCT5:chaperonin containing TCP1 subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_012073.5(CCT5):c.440A>G (p.His147Arg)
HGVS:
  • NC_000005.10:g.10256063A>G
  • NG_012160.1:g.10894A>G
  • NM_001306153.1:c.377A>G
  • NM_001306154.2:c.275A>G
  • NM_001306155.2:c.161A>G
  • NM_001306156.2:c.326A>G
  • NM_012073.4:c.440A>G
  • NM_012073.5:c.440A>GMANE SELECT
  • NP_001293082.1:p.His126Arg
  • NP_001293083.1:p.His92Arg
  • NP_001293084.1:p.His54Arg
  • NP_001293085.1:p.His109Arg
  • NP_036205.1:p.His147Arg
  • LRG_361t1:c.440A>G
  • LRG_361:g.10894A>G
  • NC_000005.9:g.10256175A>G
  • NM_012073.3:c.440A>G
  • P48643:p.His147Arg
Protein change:
H109R; HIS147ARG
Links:
UniProtKB: P48643#VAR_030658; OMIM: 610150.0001; dbSNP: rs118203986
NCBI 1000 Genomes Browser:
rs118203986
Molecular consequence:
  • NM_001306153.1:c.377A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306154.2:c.275A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306155.2:c.161A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001306156.2:c.326A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012073.5:c.440A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CCT5-related disorder
Synonyms:
CCT5-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004774907PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 4, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004774907.2

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

Description

The CCT5 c.440A>G variant is predicted to result in the amino acid substitution p.His147Arg. This variant has been reported in the homozygous state in multiple family members with neuropathy and spastic paraplegia (Figure 1, Bouhouche et al. 2006. PubMed ID: 16399879). This variant is reported in 0.056% of alleles in individuals of Latino descent in gnomAD. The results of in vitro experimental studies of this variant are inconclusive (Sergeeva et al. 2014. PubMed ID: 25124038; Min et al. 2014. PubMed ID: 25345891; Pereira et al. 2017. PubMed ID: 28623285; Spigolon et al. 2017. PubMed ID: 29552646). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024