NM_002225.5(IVD):c.1179del (p.Leu394fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 14, 2016
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:: RCV000726298.5

Allele description [Variation Report for NM_002225.5(IVD):c.1179del (p.Leu394fs)]

NM_002225.5(IVD):c.1179del (p.Leu394fs)

Gene:

IVD:isovaleryl-CoA dehydrogenase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.1

Genomic location:

Preferred name:

NM_002225.5(IVD):c.1179del (p.Leu394fs)

HGVS:

NC_000015.10:g.40418170del
NC_000015.9:g.40710367del
NG_011986.2:g.17686del
NM_001159508.3:c.1089del
NM_001354597.3:c.1131del
NM_001354598.3:c.1138+1808del
NM_001354599.3:c.1266del
NM_001354600.3:c.1225+1808del
NM_001354601.3:c.1138+1808del
NM_002225.5:c.1179delMANE SELECT
NP_001152980.2:p.Leu364fs
NP_001341526.1:p.Leu378fs
NP_001341528.2:p.Leu423fs
NP_002216.3:p.Leu394fs
NC_000015.9:g.40710367del
NC_000015.9:g.40710369del
NC_000015.9:g.40710369delT
NM_002225.3:c.1188del
NM_002225.3:c.1188delT

Protein change:

L364fs

Links:

OMIM: 607036.0003; dbSNP: rs786204613

NCBI 1000 Genomes Browser:

rs786204613

Molecular consequence:

NM_001159508.3:c.1089del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354597.3:c.1131del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354599.3:c.1266del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002225.5:c.1179del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354598.3:c.1138+1808del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354600.3:c.1225+1808del - intron variant - [Sequence Ontology: SO:0001627]
NM_001354601.3:c.1138+1808del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000343519	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely pathogenic (Jul 14, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000343519

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely pathogenic
(Jul 14, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000343519.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 16, 2025

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