NM_004531.5(MOCS2):c.65dup (p.Leu23fs) AND Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2003
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:: RCV000006485.4

Allele description [Variation Report for NM_004531.5(MOCS2):c.65dup (p.Leu23fs)]

NM_004531.5(MOCS2):c.65dup (p.Leu23fs)

Gene:

MOCS2:molybdenum cofactor synthesis 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q11.2

Genomic location:

Preferred name:

NM_004531.5(MOCS2):c.65dup (p.Leu23fs)

HGVS:

NC_000005.10:g.53107116dup
NG_008435.2:g.7659dup
NM_004531.5:c.65dupMANE SELECT
NM_176806.2:c.252dup
NM_176806.4:c.252dup
NP_004522.1:p.Leu23fs
NP_789776.1:p.Ile85fs
NC_000005.9:g.52402939_52402940insG
NC_000005.9:g.52402946dup
NM_176806.3:c.252dup

Protein change:

I85fs

Links:

OMIM: 603708.0004; dbSNP: rs398122799

NCBI 1000 Genomes Browser:

rs398122799

Molecular consequence:

NM_004531.5:c.65dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_176806.4:c.252dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Synonyms:: Molybdenum cofactor deficiency, complementation group B; Molybdenum cofactor deficiency B
Identifiers:: MONDO: MONDO:0009644; MedGen: C1854989; Orphanet: 833; OMIM: 252160

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026668	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2003)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 10053004, 10053003, 12754701

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026668

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2003)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT.

Am J Hum Genet. 1999 Mar;64(3):706-11.

PubMed [citation]

PMID:: 10053004
PMCID:: PMC1377787

Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames.

Stallmeyer B, Drugeon G, Reiss J, Haenni AL, Mendel RR.

Am J Hum Genet. 1999 Mar;64(3):698-705.

PubMed [citation]

PMID:: 10053003
PMCID:: PMC1377786

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000026668.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In a Portuguese patient with molybdenum cofactor deficiency (MOCODB; 252160), Reiss et al. (1999) found homozygosity for insertion of a C after nucleotide 252 in exon 3.

The 2 MOCS2 ORFs appear to be translated into 2 different proteins, MOCS2A and MOCS2B, from a single transcript with no alternative splicing involved (Stallmeyer et al., 1999). Reiss and Johnson (2003) stated that, consequently, the 252insC insertion mutation, which falls in the overlap region of MOCS2A and MOCS2B and was identified in a single patient, is the only mutation that affects both MOCS2 ORFs.

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

Last Updated: Feb 20, 2024

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