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NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 12, 2018
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:
RCV001266826.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs)]

NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs)
HGVS:
  • NC_000017.11:g.7225020dup
  • NG_007975.1:g.10187dup
  • NG_008391.2:g.31dup
  • NG_033038.1:g.14525dup
  • NM_000018.4:c.1891dupMANE SELECT
  • NM_001033859.3:c.1825dup
  • NM_001270447.2:c.1960dup
  • NM_001270448.2:c.1663dup
  • NP_000009.1:p.Tyr631fs
  • NP_001029031.1:p.Tyr609fs
  • NP_001257376.1:p.Tyr654fs
  • NP_001257377.1:p.Tyr555fs
  • NC_000017.10:g.7128339dup
  • NM_000018.2:c.1891dupT
  • NM_000018.3:c.1891dupT
Protein change:
Y555fs
Links:
dbSNP: rs2071412066
NCBI 1000 Genomes Browser:
rs2071412066
Molecular consequence:
  • NM_000018.4:c.1891dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033859.3:c.1825dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270447.2:c.1960dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270448.2:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001445006Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Uncertain significance
(Jan 12, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African Americangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.

Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2.

PubMed [citation]
PMID:
26385305
PMCID:
PMC4790081

Details of each submission

From Ambry Genetics, SCV001445006.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023