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NM_021629.4(GNB4):c.204-2A>G AND Charcot-Marie-Tooth disease dominant intermediate F

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 9, 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:
RCV001221757.6

Allele description [Variation Report for NM_021629.4(GNB4):c.204-2A>G]

NM_021629.4(GNB4):c.204-2A>G

Gene:
GNB4:G protein subunit beta 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.33
Genomic location:
Preferred name:
NM_021629.4(GNB4):c.204-2A>G
HGVS:
  • NC_000003.12:g.179416558T>C
  • NG_033163.1:g.40026A>G
  • NM_021629.4:c.204-2A>GMANE SELECT
  • NC_000003.11:g.179134346T>C
  • NM_021629.3:c.204-2A>G
Links:
dbSNP: rs1410643364
NCBI 1000 Genomes Browser:
rs1410643364
Molecular consequence:
  • NM_021629.4:c.204-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Charcot-Marie-Tooth disease dominant intermediate F
Identifiers:
MONDO: MONDO:0014074; MedGen: C4749463; Orphanet: 352670; OMIM: 615185

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001393819Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 9, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001393819.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GNB4 cause disease. This variant has been observed in an individual affected with sensory and/or motor neuropathy (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 4 of the GNB4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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

Last Updated: Feb 28, 2024