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NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter) AND Distal hereditary motor neuropathy type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 10, 2023
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:
RCV003597064.1

Allele description [Variation Report for NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter)]

NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter)

Gene:
FBXO38:F-box protein 38 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter)
HGVS:
  • NC_000005.10:g.148402394dup
  • NG_033871.1:g.23460dup
  • NM_001271723.2:c.473dup
  • NM_024862.1:c.473dup
  • NM_030793.5:c.473dup
  • NM_205836.3:c.473dupMANE SELECT
  • NP_001258652.1:p.Tyr158Ter
  • NP_079138.1:p.Tyr158Terfs
  • NP_110420.3:p.Tyr158Ter
  • NP_995308.1:p.Tyr158Ter
  • NC_000005.9:g.147781956_147781957insA
  • NC_000005.9:g.147781957dup
Protein change:
Y158*
Molecular consequence:
  • NM_024862.1:c.473dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001271723.2:c.473dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024862.1:c.473dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_030793.5:c.473dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_205836.3:c.473dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Distal hereditary motor neuropathy type 2
Identifiers:
MONDO: MONDO:0015352; MeSH: C580044; MedGen: C3711384

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004321413Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 10, 2023) 		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, SCV004321413.1

#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. This variant has not been reported in the literature in individuals affected with FBXO38-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr158*) in the FBXO38 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in FBXO38 cause disease.

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

Last Updated: Feb 20, 2024