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NM_002225.5(IVD):c.504T>G (p.Asn168Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 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:
RCV002707573.2

Allele description [Variation Report for NM_002225.5(IVD):c.504T>G (p.Asn168Lys)]

NM_002225.5(IVD):c.504T>G (p.Asn168Lys)

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.504T>G (p.Asn168Lys)
HGVS:
  • NC_000015.10:g.40411307T>G
  • NG_011986.2:g.10823T>G
  • NM_001159508.3:c.414T>G
  • NM_001354597.3:c.456T>G
  • NM_001354598.3:c.504T>G
  • NM_001354599.3:c.591T>G
  • NM_001354600.3:c.591T>G
  • NM_001354601.3:c.504T>G
  • NM_002225.5:c.504T>GMANE SELECT
  • NP_001152980.2:p.Asn138Lys
  • NP_001341526.1:p.Asn152Lys
  • NP_001341527.2:p.Asn168Lys
  • NP_001341528.2:p.Asn197Lys
  • NP_001341529.2:p.Asn197Lys
  • NP_001341530.2:p.Asn168Lys
  • NP_002216.3:p.Asn168Lys
  • NC_000015.9:g.40703506T>G
  • NM_002225.3:c.513T>G
  • NR_148925.2:n.916T>G
Protein change:
N138K
Molecular consequence:
  • NM_001159508.3:c.414T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354597.3:c.456T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354598.3:c.504T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354599.3:c.591T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354600.3:c.591T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354601.3:c.504T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002225.5:c.504T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148925.2:n.916T>G - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003553085Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 12, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003553085.2

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

Description

The c.513T>G (p.N171K) alteration is located in exon 5 (coding exon 5) of the IVD gene. This alteration results from a T to G substitution at nucleotide position 513, causing the asparagine (N) at amino acid position 171 to be replaced by a lysine (K). 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: May 1, 2024