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NM_002225.5(IVD):c.550+1G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 24, 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:
RCV000413513.2

Allele description [Variation Report for NM_002225.5(IVD):c.550+1G>A]

NM_002225.5(IVD):c.550+1G>A

Gene:
IVD:isovaleryl-CoA dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_002225.5(IVD):c.550+1G>A
HGVS:
  • NC_000015.10:g.40411354G>A
  • NG_011986.2:g.10870G>A
  • NM_001159508.3:c.460+1G>A
  • NM_001354597.3:c.502+1G>A
  • NM_001354598.3:c.550+1G>A
  • NM_001354599.3:c.637+1G>A
  • NM_001354600.3:c.637+1G>A
  • NM_001354601.3:c.550+1G>A
  • NM_002225.5:c.550+1G>AMANE SELECT
  • NC_000015.9:g.40703553G>A
  • NM_002225.3:c.559+1G>A
  • NM_002225.4:c.550+1G>A
Links:
dbSNP: rs377147994
NCBI 1000 Genomes Browser:
rs377147994
Molecular consequence:
  • NM_001159508.3:c.460+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354597.3:c.502+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354598.3:c.550+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354599.3:c.637+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354600.3:c.637+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354601.3:c.550+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_002225.5:c.550+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000490570GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Oct 24, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000490570.3

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

Description

Observed in patient with inborn error of metabolism in published literature; however, no further clinical information was provided (PMID: 32778825); Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as c.550+1 G>A; This variant is associated with the following publications: (PMID: 16602101, 16199547, 32778825)

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

Last Updated: Mar 10, 2024