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NM_000018.4(ACADVL):c.1751+46C>G AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 15, 2017
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:
RCV000671348.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.1751+46C>G]

NM_000018.4(ACADVL):c.1751+46C>G

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.1751+46C>G
HGVS:
  • NC_000017.11:g.7224760C>G
  • NG_007975.1:g.9927C>G
  • NG_008391.2:g.291G>C
  • NG_033038.1:g.14785G>C
  • NM_000018.4:c.1751+46C>GMANE SELECT
  • NM_001033859.3:c.1685+46C>G
  • NM_001270447.2:c.1820+46C>G
  • NM_001270448.2:c.1523+46C>G
  • NC_000017.10:g.7128079C>G
  • NM_000018.3:c.1751+46C>G
Links:
dbSNP: rs375203448
NCBI 1000 Genomes Browser:
rs375203448
Molecular consequence:
  • NM_000018.4:c.1751+46C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001033859.3:c.1685+46C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001270447.2:c.1820+46C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001270448.2:c.1523+46C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Very long chain acyl-CoA dehydrogenase deficiency (ACADVLD)
Synonyms:
VLCAD deficiency
Identifiers:
MONDO: MONDO:0008723; MedGen: C3887523; Orphanet: 26793; OMIM: 201475

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000796313Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(Dec 15, 2017) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000796313.1

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

Last Updated: Apr 23, 2022