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NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 17, 2022
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:
RCV004018578.1

Allele description [Variation Report for NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)]

NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)

Gene:
MOCS1:molybdenum cofactor synthesis 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.2
Genomic location:
Preferred name:
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp)
HGVS:
  • NC_000006.12:g.39927362G>A
  • NG_009297.1:g.12154C>T
  • NM_001075098.4:c.217C>T
  • NM_001358529.2:c.217C>T
  • NM_001358530.2:c.217C>TMANE SELECT
  • NM_001358531.2:c.-11-1517C>T
  • NM_001358533.2:c.-11-1517C>T
  • NM_001358534.2:c.-45C>T
  • NM_005943.5:c.217C>T
  • NM_005943.6:c.217C>T
  • NP_001068566.1:p.Arg73Trp
  • NP_001345458.1:p.Arg73Trp
  • NP_001345459.1:p.Arg73Trp
  • NP_005934.2:p.Arg73Trp
  • NC_000006.11:g.39895101G>A
  • NM_005943.6:c.217C>T
  • Q9NZB8:p.Arg73Trp
Protein change:
R73W; ARG73TRP
Links:
UniProtKB: Q9NZB8#VAR_015658; OMIM: 603707.0005; dbSNP: rs104893970
NCBI 1000 Genomes Browser:
rs104893970
Molecular consequence:
  • NM_001358534.2:c.-45C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001358531.2:c.-11-1517C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001358533.2:c.-11-1517C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001075098.4:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001358529.2:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001358530.2:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005943.6:c.217C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004980491Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jul 17, 2022)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.

Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C.

Hum Genet. 1998 Dec;103(6):639-44.

PubMed [citation]
PMID:
9921896

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.

Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş S, Engelen J, Dundar M, Cağlayan AO.

Dev Med Child Neurol. 2010 Sep;52(9):868-72. doi: 10.1111/j.1469-8749.2010.03724.x. Epub 2010 Jun 22.

PubMed [citation]
PMID:
20573177

Details of each submission

From Ambry Genetics, SCV004980491.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.217C>T (p.R73W) alteration is located in exon 1 (coding exon 1) of the MOCS1 gene. This alteration results from a C to T substitution at nucleotide position 217, causing the arginine (R) at amino acid position 73 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Jun 17, 2024