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NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs) AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 23, 2020
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:
RCV002252030.2

Allele description [Variation Report for NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)]

NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)

Genes:
GAREM2:GRB2 associated regulator of MAPK1 subtype 2 [Gene - OMIM - HGNC]
HADHA:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)
HGVS:
  • NC_000002.12:g.26192391_26192394dup
  • NG_007121.1:g.57227_57230dup
  • NM_000182.5:c.1916_1919dupMANE SELECT
  • NP_000173.2:p.Glu641fs
  • LRG_747t1:c.1916_1919dup
  • LRG_747p1:p.Glu641fs
  • NC_000002.11:g.26415259_26415260insTGAT
  • NC_000002.11:g.26415260_26415263dup
  • NM_000182.4:c.1916_1919dupATCA
  • NM_000182.5:c.1919_1920insATCAMANE SELECT
  • p.E641SfsX12
Protein change:
E641fs
Links:
dbSNP: rs796051971
NCBI 1000 Genomes Browser:
rs796051971
Molecular consequence:
  • NM_000182.5:c.1916_1919dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523659Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 23, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523659.1

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

Description

ACMG classification criteria: PVS1, PS4, PM2

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

Last Updated: Sep 29, 2024