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NM_000183.3(HADHB):c.1280G>A (p.Gly427Glu) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jul 20, 2020
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:
RCV000078338.20

Allele description [Variation Report for NM_000183.3(HADHB):c.1280G>A (p.Gly427Glu)]

NM_000183.3(HADHB):c.1280G>A (p.Gly427Glu)

Gene:
HADHB:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000183.3(HADHB):c.1280G>A (p.Gly427Glu)
HGVS:
  • NC_000002.12:g.26285462G>A
  • NG_007294.1:g.45510G>A
  • NM_000183.3:c.1280G>AMANE SELECT
  • NM_001281512.2:c.1235G>A
  • NM_001281513.2:c.1214G>A
  • NP_000174.1:p.Gly427Glu
  • NP_001268441.1:p.Gly412Glu
  • NP_001268442.1:p.Gly405Glu
  • NC_000002.11:g.26508330G>A
  • NM_000183.2:c.1280G>A
Protein change:
G405E
Links:
dbSNP: rs398123239
NCBI 1000 Genomes Browser:
rs398123239
Molecular consequence:
  • NM_000183.3:c.1280G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281512.2:c.1235G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281513.2:c.1214G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
7

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
SCV000110184Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Jul 13, 2016) 		germlineclinical testing

Citation Link,

SCV001713165Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 20, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown7not 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), SCV000110184.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided6not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713165.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024