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NM_001358530.2(MOCS1):c.124-39A>G AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 2023
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:
RCV004478319.1

Allele description [Variation Report for NM_001358530.2(MOCS1):c.124-39A>G]

NM_001358530.2(MOCS1):c.124-39A>G

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.124-39A>G
HGVS:
  • NC_000006.12:g.39927494T>C
  • NG_009297.1:g.12022A>G
  • NG_009297.2:g.11968A>G
  • NM_001075098.4:c.124-39A>G
  • NM_001358529.2:c.124-39A>G
  • NM_001358530.2:c.124-39A>GMANE SELECT
  • NM_001358531.2:c.-11-1649A>G
  • NM_001358533.2:c.-11-1649A>G
  • NM_001358534.2:c.-138-39A>G
  • NM_005943.6:c.85A>G
  • NP_005934.2:p.Ser29Gly
  • NC_000006.11:g.39895233T>C
  • NM_005943.5:c.85A>G
Protein change:
S29G
Molecular consequence:
  • NM_001075098.4:c.124-39A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001358529.2:c.124-39A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001358530.2:c.124-39A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001358531.2:c.-11-1649A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001358533.2:c.-11-1649A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001358534.2:c.-138-39A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005943.6:c.85A>G - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004978699Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 14, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004978699.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.85A>G (p.S29G) alteration is located in exon 1 (coding exon 1) of the MOCS1 gene. This alteration results from a A to G substitution at nucleotide position 85, causing the serine (S) at amino acid position 29 to be replaced by a glycine (G). 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: May 7, 2024