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NM_025233.7(COASY):c.-1C>T AND Neurodegeneration with brain iron accumulation 6

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000509518.2

Allele description [Variation Report for NM_025233.7(COASY):c.-1C>T]

NM_025233.7(COASY):c.-1C>T

Genes:
LOC130060908:ATAC-STARR-seq lymphoblastoid active region 12207 [Gene]
COASY:Coenzyme A synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_025233.7(COASY):c.-1C>T
HGVS:
  • NC_000017.11:g.42562622C>T
  • NG_029442.1:g.563C>T
  • NG_034110.1:g.5549C>T
  • NM_001042529.3:c.-1C>T
  • NM_001042532.4:c.87C>T
  • NM_025233.7:c.-1C>TMANE SELECT
  • NP_001035997.2:p.Ser29=
  • NC_000017.10:g.40714640C>T
  • NM_025233.6:c.-1C>T
Links:
dbSNP: rs147852474
NCBI 1000 Genomes Browser:
rs147852474
Molecular consequence:
  • NM_001042529.3:c.-1C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_025233.7:c.-1C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001042532.4:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Neurodegeneration with brain iron accumulation 6 (NBIA6)
Synonyms:
COASY protein-associated neurodegeneration
Identifiers:
MONDO: MONDO:0014290; MedGen: C4517377; Orphanet: 397725; OMIM: 615643

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607238GenomeConnect, ClinGen
no classification provided
not providedpaternal, unknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknown1not providednot provided1not providedphenotyping only
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607238.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided
2not provided1not providednot providedphenotyping onlynot provided

Description

The variant was identified in multiple GenomeConnect participants. The variant was interpreted as Uncertain significance and was reported, most recently, on 10-14-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknown1not providedvalidation1not providednot providednot provided
2unknownunknown1not providedvalidation1not providednot providednot provided

Last Updated: Oct 20, 2024