NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter) AND Sulfite oxidase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 28, 2021
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:: RCV002251710.3

Allele description [Variation Report for NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter)]

NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter)

Gene:

SUOX:sulfite oxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.2

Genomic location:

Preferred name:

NM_001032386.2(SUOX):c.905T>G (p.Leu302Ter)

HGVS:

NC_000012.12:g.56004294T>G
NG_008136.1:g.12036T>G
NM_000456.3:c.905T>G
NM_001032386.2:c.905T>GMANE SELECT
NM_001032387.2:c.905T>G
NP_000447.2:p.Leu302Ter
NP_001027558.1:p.Leu302Ter
NP_001027559.1:p.Leu302Ter
NC_000012.11:g.56398078T>G
NM_001032386.1:c.905T>G

Protein change:

L302*

Links:

dbSNP: rs2136512310

NCBI 1000 Genomes Browser:

rs2136512310

Molecular consequence:

NM_000456.3:c.905T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001032386.2:c.905T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001032387.2:c.905T>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002522132	Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS)	no assertion criteria provided	Pathogenic (Oct 28, 2021)	biparental	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002522132

Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS)

no assertion criteria provided

Pathogenic
(Oct 28, 2021)

biparental

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS), SCV002522132.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	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	biparental	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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