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NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 13, 2022
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:
RCV002517825.2

Allele description [Variation Report for NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)]

NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)

Gene:
IVD:isovaleryl-CoA dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
HGVS:
  • NC_000015.10:g.40411267GTG[3]
  • NG_011986.2:g.10783GTG[3]
  • NM_001159508.3:c.374GTG[3]
  • NM_001354597.3:c.416GTG[3]
  • NM_001354598.3:c.464GTG[3]
  • NM_001354599.3:c.551GTG[3]
  • NM_001354600.3:c.551GTG[3]
  • NM_001354601.3:c.464GTG[3]
  • NM_002225.5:c.464GTG[3]MANE SELECT
  • NP_001152980.2:p.Gly126dup
  • NP_001341526.1:p.Gly140dup
  • NP_001341527.2:p.Gly156dup
  • NP_001341528.2:p.Gly185dup
  • NP_001341529.2:p.Gly185dup
  • NP_001341530.2:p.Gly156dup
  • NP_002216.3:p.Gly156dup
  • NC_000015.9:g.40703465_40703466insGTG
  • NC_000015.9:g.40703466GTG[3]
  • NM_002225.3:c.476_478dup
  • NM_002225.3:c.476_478dupGTG
  • NM_002225.5:c.467_469dupMANE SELECT
  • NR_148925.2:n.876GTG[3]
  • p.G159_E160insG
Links:
dbSNP: rs796051982
NCBI 1000 Genomes Browser:
rs796051982
Molecular consequence:
  • NM_001159508.3:c.374GTG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354597.3:c.416GTG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354598.3:c.464GTG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354599.3:c.551GTG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354600.3:c.551GTG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354601.3:c.464GTG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_002225.5:c.464GTG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NR_148925.2:n.876GTG[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003701640Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Apr 13, 2022)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia.

Ibarra-González I, Fernández-Lainez C, Guillén-López S, López-Mejía L, Belmont-Matínez L, Sokolsky TD, Amin VR, Kitchener RL, Vela-Amieva M, Naylor EW, Bhattacharjee A.

Clin Chim Acta. 2020 Feb;501:216-221. doi: 10.1016/j.cca.2019.10.041. Epub 2019 Nov 9.

PubMed [citation]
PMID:
31707166

Details of each submission

From Ambry Genetics, SCV003701640.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.476_478dupGTG (p.G159dup) alteration is located in exon 5 (coding exon 5) of the IVD gene. The alteration consists of an in-frame duplication of 3 nucleotides from position 476 to 478, resulting in the duplication of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Jun 17, 2024