NM_002225.5(IVD):c.650del (p.Pro217fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 22, 2017
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:: RCV000728725.4

Allele description [Variation Report for NM_002225.5(IVD):c.650del (p.Pro217fs)]

NM_002225.5(IVD):c.650del (p.Pro217fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

15q15.1

Genomic location:

Preferred name:

NM_002225.5(IVD):c.650del (p.Pro217fs)

HGVS:

NC_000015.10:g.40411654del
NG_011986.2:g.11170del
NM_001159508.3:c.560del
NM_001354597.3:c.602del
NM_001354598.3:c.650del
NM_001354599.3:c.737del
NM_001354600.3:c.737del
NM_001354601.3:c.650del
NM_002225.5:c.650delMANE SELECT
NP_001152980.2:p.Pro187fs
NP_001341526.1:p.Pro201fs
NP_001341527.2:p.Pro217fs
NP_001341528.2:p.Pro246fs
NP_001341529.2:p.Pro246fs
NP_001341530.2:p.Pro217fs
NP_002216.3:p.Pro217fs
NC_000015.9:g.40703853del
NR_148925.2:n.1062del

Protein change:

P187fs

Links:

dbSNP: rs1364046355

NCBI 1000 Genomes Browser:

rs1364046355

Molecular consequence:

NM_001159508.3:c.560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354597.3:c.602del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354598.3:c.650del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354599.3:c.737del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354600.3:c.737del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354601.3:c.650del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002225.5:c.650del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_148925.2:n.1062del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000856333	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Aug 22, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000856333

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Aug 22, 2017)

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), SCV000856333.1

#	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: Apr 1, 2023

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