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NM_001966.4(EHHADH):c.1793A>G (p.Lys598Arg) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 12, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000733757.5

Allele description [Variation Report for NM_001966.4(EHHADH):c.1793A>G (p.Lys598Arg)]

NM_001966.4(EHHADH):c.1793A>G (p.Lys598Arg)

Gene:
EHHADH:enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.2
Genomic location:
Preferred name:
NM_001966.4(EHHADH):c.1793A>G (p.Lys598Arg)
HGVS:
  • NC_000003.12:g.185192605T>C
  • NG_015999.1:g.66494A>G
  • NM_001166415.2:c.1505A>G
  • NM_001966.4:c.1793A>GMANE SELECT
  • NP_001159887.1:p.Lys502Arg
  • NP_001957.2:p.Lys598Arg
  • NC_000003.11:g.184910393T>C
Protein change:
K502R
Links:
dbSNP: rs1042437
NCBI 1000 Genomes Browser:
rs1042437
Molecular consequence:
  • NM_001166415.2:c.1505A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001966.4:c.1793A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000861854Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)		Uncertain significance
(Jun 12, 2018) 		germlineclinical testing

Citation Link,

SCV005189913Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providednot provided
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000861854.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005189913.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 25, 2024