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NM_022120.2(OXCT2):c.1207A>G (p.Lys403Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 30, 2021
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:
RCV004107655.1

Allele description [Variation Report for NM_022120.2(OXCT2):c.1207A>G (p.Lys403Glu)]

NM_022120.2(OXCT2):c.1207A>G (p.Lys403Glu)

Genes:
OXCT2:3-oxoacid CoA-transferase 2 [Gene - OMIM - HGNC]
BMP8B:bone morphogenetic protein 8b [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_022120.2(OXCT2):c.1207A>G (p.Lys403Glu)
HGVS:
  • NC_000001.11:g.39770049T>C
  • NM_001720.5:c.673+4259A>GMANE SELECT
  • NM_022120.2:c.1207A>GMANE SELECT
  • NP_071403.1:p.Lys403Glu
  • NC_000001.10:g.40235721T>C
  • NM_022120.1:c.1207A>G
Protein change:
K403E
Molecular consequence:
  • NM_001720.5:c.673+4259A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022120.2:c.1207A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003580356Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 30, 2021) 		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, SCV003580356.2

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

Description

The c.1207A>G (p.K403E) alteration is located in exon 1 (coding exon 1) of the OXCT2 gene. This alteration results from a A to G substitution at nucleotide position 1207, causing the lysine (K) at amino acid position 403 to be replaced by a glutamic acid (E). 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: Oct 13, 2024