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NM_002225.5(IVD):c.286+5G>T AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Nov 21, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001532256.21

Allele description [Variation Report for NM_002225.5(IVD):c.286+5G>T]

NM_002225.5(IVD):c.286+5G>T

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.286+5G>T
HGVS:
  • NC_000015.10:g.40407995G>T
  • NG_011986.2:g.7511G>T
  • NM_001159508.3:c.196+5G>T
  • NM_001354597.3:c.238+5G>T
  • NM_001354598.3:c.286+5G>T
  • NM_001354599.3:c.373+5G>T
  • NM_001354600.3:c.373+5G>T
  • NM_001354601.3:c.286+5G>T
  • NM_002225.5:c.286+5G>TMANE SELECT
  • NC_000015.9:g.40700194G>T
Links:
dbSNP: rs878909737
NCBI 1000 Genomes Browser:
rs878909737
Molecular consequence:
  • NM_001159508.3:c.196+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354597.3:c.238+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354598.3:c.286+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354599.3:c.373+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354600.3:c.373+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354601.3:c.286+5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002225.5:c.286+5G>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV001747727CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely pathogenic
(May 1, 2021) 		germlineclinical testing

Citation Link,

SCV002757430GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Nov 21, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001747727.20

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV002757430.1

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

Description

Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 22960500, 33496032, 15486829)

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

Last Updated: Oct 20, 2024