NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 17, 2016
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:: RCV000414551.1

Allele description [Variation Report for NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp)]

NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp)

Gene:

FOXRED1:FAD dependent oxidoreductase domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.2

Genomic location:

Preferred name:

NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp)

HGVS:

NC_000011.10:g.126273068C>T
NG_028029.1:g.9029C>T
NM_017547.4:c.406C>TMANE SELECT
NP_060017.1:p.Arg136Trp
NC_000011.9:g.126142963C>T
NM_017547.3:c.406C>T
NR_037647.2:n.238C>T
NR_037648.2:n.583C>T

Protein change:

R136W

Links:

dbSNP: rs373075574

NCBI 1000 Genomes Browser:

rs373075574

Molecular consequence:

NM_017547.4:c.406C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_037647.2:n.238C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_037648.2:n.583C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000491193	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Aug 17, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000491193

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Aug 17, 2016)

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 GeneDx, SCV000491193.1

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

Description

The R136W variant in the FOXRED1 gene has been reported previously in the compound heterozygous state, along with a frameshift variant, in one patient with mitochondrial complex I deficiency (Haack et al., 2012). The R136W variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R136W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R136W as a likely pathogenic variant.

#	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: Jun 23, 2024

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