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NM_024417.5(FDXR):c.926G>A (p.Arg309Gln) AND Auditory neuropathy-optic atrophy syndrome

Germline classification:
Uncertain significance (1 submission)
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:
RCV001823457.3

Allele description [Variation Report for NM_024417.5(FDXR):c.926G>A (p.Arg309Gln)]

NM_024417.5(FDXR):c.926G>A (p.Arg309Gln)

Gene:
FDXR:ferredoxin reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_024417.5(FDXR):c.926G>A (p.Arg309Gln)
HGVS:
  • NC_000017.11:g.74864224C>T
  • NM_001258012.4:c.1055G>A
  • NM_001258013.4:c.1019G>A
  • NM_001258014.4:c.902G>A
  • NM_001258015.3:c.806G>A
  • NM_001258016.3:c.770G>A
  • NM_004110.6:c.944G>A
  • NM_024417.5:c.926G>AMANE SELECT
  • NP_001244941.2:p.Arg352Gln
  • NP_001244942.2:p.Arg340Gln
  • NP_001244943.2:p.Arg301Gln
  • NP_001244944.1:p.Arg269Gln
  • NP_001244945.2:p.Arg257Gln
  • NP_004101.3:p.Arg315Gln
  • NP_077728.3:p.Arg309Gln
  • NC_000017.10:g.72860346C>T
  • NM_001258012.3:c.[1055G>A]
  • NR_047576.3:n.1076G>A
Protein change:
R257Q
Links:
dbSNP: rs948669536
NCBI 1000 Genomes Browser:
rs948669536
Molecular consequence:
  • NM_001258012.4:c.1055G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258013.4:c.1019G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258014.4:c.902G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258015.3:c.806G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258016.3:c.770G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004110.6:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024417.5:c.926G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047576.3:n.1076G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Auditory neuropathy-optic atrophy syndrome
Synonyms:
AUDITORY NEUROPATHY AND OPTIC ATROPHY
Identifiers:
MONDO: MONDO:0060582; MedGen: C4521678; OMIM: 617717

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002072903Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV002072903.1

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

Description

The missense variant p.R309Q in FDXR (NM_024417.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.R309Q variant is observed in 1/1,07,464 (0.0009%) alleles from individuals of European (Non-Finnish) background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.R309Q missense variant is predicted to be damaging by both SIFT and PolyPhen2. The arginine residue at codon 309 of FDXR is conserved in all mammalian species. The nucleotide c.926 in FDXR is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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

Last Updated: Apr 6, 2024