NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 21, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000657172.3

Allele description [Variation Report for NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)]

NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)

Gene:
FBXL4:F-box and leucine rich repeat protein 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q16.2
Genomic location:
Preferred name:
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)
HGVS:
  • NC_000006.12:g.98905463del
  • NG_033903.1:g.47545del
  • NM_001278716.2:c.1067delMANE SELECT
  • NM_012160.5:c.1067del
  • NP_001265645.1:p.Gly356fs
  • NP_036292.2:p.Gly356fs
  • NC_000006.11:g.99353339del
  • NM_012160.3:c.1067delG
  • NM_012160.4:c.1067delG
  • NR_103836.2:n.1052del
  • NR_103837.2:n.1052del
Protein change:
G356fs
Links:
dbSNP: rs1554219474
NCBI 1000 Genomes Browser:
rs1554219474
Molecular consequence:
  • NM_001278716.2:c.1067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012160.5:c.1067del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_103836.2:n.1052del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_103837.2:n.1052del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000778893GeneDxcriteria provided, single submitter
Pathogenic
(May 21, 2018)
germlineclinical testing

Citation Link,

SCV000802753Mayo Clinic Laboratories,Mayo Clinicno assertion criteria providedLikely pathogenic
(Mar 8, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000778893.2

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

Description

The c.1067delG variant has been reported previously in the homozygous and compound heterozygous states in patients with symptoms that include early-onset lactic acidemia, hypotonia, encephalopathy, developmental delay, failure to thrive, microcephaly and defects in the respiratory chain (Gai et al. 2013; Huemer et al. 2015; Al-Shamsi et al. 2016). The c.1067delG variant is not observed in large population cohorts (Lek et al., 2016). The c.1067delG variant causes a frameshift starting with codon Glycine 356, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Gly356AlafsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as pathogenic.

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

From Mayo Clinic Laboratories,Mayo Clinic, SCV000802753.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 2, 2021

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