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NM_001032386.2(SUOX):c.810dup (p.Glu271Ter) AND Sulfite oxidase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 5, 2019
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:
RCV001257120.2

Allele description [Variation Report for NM_001032386.2(SUOX):c.810dup (p.Glu271Ter)]

NM_001032386.2(SUOX):c.810dup (p.Glu271Ter)

Gene:
SUOX:sulfite oxidase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q13.2
Genomic location:
Preferred name:
NM_001032386.2(SUOX):c.810dup (p.Glu271Ter)
HGVS:
  • NC_000012.12:g.56004199dup
  • NG_008136.1:g.11941dup
  • NM_000456.3:c.810dup
  • NM_001032386.2:c.810dupMANE SELECT
  • NM_001032387.2:c.810dup
  • NP_000447.2:p.Glu271Ter
  • NP_001027558.1:p.Glu271Ter
  • NP_001027559.1:p.Glu271Ter
  • NC_000012.11:g.56397983dup
  • NM_001032386.2:c.810dupTMANE SELECT
Protein change:
E271*
Links:
dbSNP: rs1890647333
NCBI 1000 Genomes Browser:
rs1890647333
Molecular consequence:
  • NM_000456.3:c.810dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001032386.2:c.810dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001032387.2:c.810dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Sulfite oxidase deficiency
Synonyms:
Isolated sulfite oxidase deficiency
Identifiers:
MONDO: MONDO:0010089; MedGen: C0268624; Orphanet: 833; OMIM: 272300; Human Phenotype Ontology: HP:0003643

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001433643Johns Hopkins Genomics, Johns Hopkins University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 5, 2019) 		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

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 Johns Hopkins Genomics, Johns Hopkins University, SCV001433643.1

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

Description

This SUOX variant is absent from a large population dataset and has not been reported in the literature, to our knowledge. This frameshift variant is predicted to lead to a premature stop codon in the last exon of the gene, likely escaping nonsense-mediated decay and resulting in a truncated protein product. Critical molybdopterin binding sites, which have an important role in the function of sulfite oxidase, are predicted to be missing from the truncated protein. Truncating variants downstream of p.Glu271Ter have been reported in individuals diagnosed with sulfite oxidase deficiency. We consider this variant to be likely pathogenic.

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

Last Updated: Jul 29, 2023