NM_001358530.2(MOCS1):c.*1775_*1778dup AND Combined molybdoflavoprotein enzyme deficiency

NM_001358530.2(MOCS1):c.1775_1778dup AND Combined molybdoflavoprotein enzyme deficiency

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000393387.5

Allele description [Variation Report for NM_001358530.2(MOCS1):c.1775_1778dup]

NM_001358530.2(MOCS1):c.1775_1778dup

Genes:

DAAM2:dishevelled associated activator of morphogenesis 2 [Gene - OMIM - HGNC]
MOCS1:molybdenum cofactor synthesis 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p21.2

Genomic location:

Preferred name:

NM_001358530.2(MOCS1):c.*1775_*1778dup

HGVS:

NC_000006.12:g.39904582_39904585dup
NG_009297.1:g.34897_34900dup
NG_009297.2:g.34880_34883dup
NM_001075098.4:c.*2543_*2546dup
NM_001201427.2:c.*2545_*2548dupMANE SELECT
NM_001358529.2:c.*1775_*1778dup
NM_001358530.2:c.*1775_*1778dupMANE SELECT
NM_001358531.2:c.*1775_*1778dup
NM_001358533.2:c.*2543_*2546dup
NM_001358534.2:c.*2543_*2546dup
NM_005943.6:c.*2543_*2546dup
NM_015345.4:c.*2545_*2548dup
NC_000006.11:g.39872358_39872361dup
NM_005943.5:c.*2543_*2546dupATTT
NR_033233.2:n.3556_3559dup

Links:

dbSNP: rs112997952

NCBI 1000 Genomes Browser:

rs112997952

Molecular consequence:

NM_001075098.4:c.*2543_*2546dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001201427.2:c.*2545_*2548dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001358529.2:c.*1775_*1778dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001358530.2:c.*1775_*1778dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001358531.2:c.*1775_*1778dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001358533.2:c.*2543_*2546dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001358534.2:c.*2543_*2546dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_005943.6:c.*2543_*2546dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_015345.4:c.*2545_*2548dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_033233.2:n.3556_3559dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Combined molybdoflavoprotein enzyme deficiency (MOCOD)
Synonyms:: Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase; Sulfite oxidase deficiency due to molybdenum cofactor deficiency; Molybdenum cofactor deficiency
Identifiers:: MONDO: MONDO:0020480; MedGen: C0268119; Orphanet: 833; OMIM: PS252150; Human Phenotype Ontology: HP:0003570

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000462862	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000462862

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000462862.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine