NM_004531.5(MOCS2):c.346_349del (p.Val116fs) AND Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1999
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:: RCV000006484.6

Allele description [Variation Report for NM_004531.5(MOCS2):c.346_349del (p.Val116fs)]

NM_004531.5(MOCS2):c.346_349del (p.Val116fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

5q11.2

Genomic location:

Preferred name:

NM_004531.5(MOCS2):c.346_349del (p.Val116fs)

HGVS:

NC_000005.10:g.53101389_53101392del
NG_008435.2:g.13379_13382del
NM_004531.5:c.346_349delMANE SELECT
NM_176806.4:c.*266_*269del
NP_004522.1:p.Val116fs
NC_000005.9:g.52397217_52397220del
NC_000005.9:g.52397219_52397222del
NM_176806.3:c.*266_*269delGTCA

Protein change:

V116fs

Links:

OMIM: 603708.0003; dbSNP: rs398122798

NCBI 1000 Genomes Browser:

rs398122798

Molecular consequence:

NM_176806.4:c.*266_*269del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004531.5:c.346_349del - 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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Clistax brasiliensis voucher Hatschbach 6862 (US) internal transcribed spacer 1,...
Clistax brasiliensis voucher Hatschbach 6862 (US) internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|1275888169|gb|KY632535.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026667	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026667

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1999)

germline

literature only

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

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

Details of each submission

From OMIM, SCV000026667.5

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

Description

In an Italian patient with molybdenum cofactor deficiency (MOCODB; 252160), Reiss et al. (1999) identified a homozygous 4-bp deletion, 533del4, in exon 5 of the MOCS2 gene.

#	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: Sep 29, 2024

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