NM_000018.3(ACADVL):c.693T>A (p.Ser231=) AND not provided

Clinical significance:Benign (Last evaluated: Dec 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000755777.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.693T>A (p.Ser231=)]

NM_000018.3(ACADVL):c.693T>A (p.Ser231=)

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_000018.3(ACADVL):c.693T>A (p.Ser231=)
Other names:
p.S231S:TCT>TCA
HGVS:
  • NC_000017.11:g.7222022T>A
  • NG_007975.1:g.7189T>A
  • NM_000018.3:c.693T>A
  • NP_000009.1:p.Ser231=
  • NC_000017.10:g.7125341T>A
  • NM_000018.2:c.693T>A
  • p.Ser231Ser
Links:
dbSNP: rs77763289
NCBI 1000 Genomes Browser:
rs77763289
Molecular consequence:
  • NM_000018.3:c.693T>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000883342ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Dec 12, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000883342.1

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

Last Updated: Mar 30, 2019

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