NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe) AND not specified

Clinical significance:Benign (Last evaluated: Mar 30, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000251701.3

Allele description [Variation Report for NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe)]

NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe)

Genes:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe)
HGVS:
  • NC_000017.11:g.7220033C>T
  • NG_007975.1:g.5200C>T
  • NM_000018.3:c.49C>T
  • NM_001270447.1:c.132-89C>T
  • NM_001270448.1:c.-255C>T
  • NP_000009.1:p.Leu17Phe
  • NC_000017.10:g.7123352C>T
  • NM_000018.2:c.49C>T
  • P49748:p.Leu17Phe
Protein change:
L17F
Links:
UniProtKB: P49748#VAR_029286; dbSNP: rs2230179
NCBI 1000 Genomes Browser:
rs2230179
Molecular consequence:
  • NM_001270448.1:c.-255C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001270447.1:c.132-89C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000018.3:c.49C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000301525PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

SCV000330995EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Mar 30, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not 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 PreventionGenetics,PreventionGenetics, SCV000301525.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000330995.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

Last Updated: Mar 30, 2019

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