NM_001270448.1(ACADVL):c.899T>C (p.Phe300Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000507850.1

Allele description [Variation Report for NM_001270448.1(ACADVL):c.899T>C (p.Phe300Ser)]

NM_001270448.1(ACADVL):c.899T>C (p.Phe300Ser)

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_001270448.1(ACADVL):c.899T>C (p.Phe300Ser)
HGVS:
  • NC_000017.11:g.7223182T>C
  • NG_007975.1:g.8349T>C
  • NM_000018.3:c.1127T>C
  • NM_001270448.1:c.899T>C
  • NP_000009.1:p.Phe376Ser
  • NP_001257377.1:p.Phe300Ser
  • NC_000017.10:g.7126501T>C
Protein change:
F300S
Links:
dbSNP: rs758928307
NCBI 1000 Genomes Browser:
rs758928307
Molecular consequence:
  • NM_000018.3:c.1127T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000602363ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(May 15, 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, SCV000602363.2

#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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