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NM_000018.4(ACADVL):c.996del (p.Ala333fs) AND Cardiac arrhythmia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 9, 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:
RCV001841276.10

Allele description [Variation Report for NM_000018.4(ACADVL):c.996del (p.Ala333fs)]

NM_000018.4(ACADVL):c.996del (p.Ala333fs)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.996del (p.Ala333fs)
HGVS:
  • NC_000017.11:g.7222784del
  • NG_007975.1:g.7951del
  • NG_008391.2:g.2268del
  • NM_000018.4:c.996delMANE SELECT
  • NM_001033859.3:c.930del
  • NM_001270447.2:c.1065del
  • NM_001270448.2:c.768del
  • NP_000009.1:p.Ala333fs
  • NP_001029031.1:p.Ala311fs
  • NP_001257376.1:p.Ala356fs
  • NP_001257377.1:p.Ala257fs
  • NC_000017.10:g.7126102del
  • NC_000017.10:g.7126103del
  • NM_000018.3:c.996delT
  • NM_000018.4:c.996delTMANE SELECT
Protein change:
A257fs
Links:
dbSNP: rs1057516843
NCBI 1000 Genomes Browser:
rs1057516843
Molecular consequence:
  • NM_000018.4:c.996del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033859.3:c.930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270447.2:c.1065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270448.2:c.768del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiac arrhythmia
Synonyms:
Cardiac rhythm disease
Identifiers:
EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001984988Clinical Genetics Laboratory, Region Ostergotland
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 9, 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 Clinical Genetics Laboratory, Region Ostergotland, SCV001984988.1

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

Description

PVS1, PM2, PM3

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

Last Updated: Nov 10, 2024