NM_001278716.2(FBXL4):c.1750del (p.Cys584fs) AND Mitochondrial DNA depletion syndrome 13

Germline classification:: Likely pathogenic (1 submission)
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:: RCV001542758.2

Allele description [Variation Report for NM_001278716.2(FBXL4):c.1750del (p.Cys584fs)]

NM_001278716.2(FBXL4):c.1750del (p.Cys584fs)

Gene:

FBXL4:F-box and leucine rich repeat protein 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q16.1

Genomic location:

Preferred name:

NM_001278716.2(FBXL4):c.1750del (p.Cys584fs)

HGVS:

NC_000006.12:g.98874395del
NG_033903.1:g.78613del
NM_001278716.2:c.1750delMANE SELECT
NM_012160.5:c.1750del
NP_001265645.1:p.Cys584fs
NP_036292.2:p.Cys584fs
NC_000006.11:g.99322271del
NR_103836.2:n.1735del

Protein change:

C584fs

Links:

dbSNP: rs2128374874

NCBI 1000 Genomes Browser:

rs2128374874

Molecular consequence:

NM_001278716.2:c.1750del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012160.5:c.1750del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103836.2:n.1735del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Mitochondrial DNA depletion syndrome 13
Synonyms:: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Identifiers:: MONDO: MONDO:0014198; MedGen: C3809592; Orphanet: 369897; OMIM: 615471

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760191	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Likely pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760191

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Likely pathogenic

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760191.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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