NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001091165.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)]

NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)

Genes:
DVL2:dishevelled segment polarity protein 2 [Gene - OMIM - HGNC]
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.1468G>C (p.Ala490Pro)
HGVS:
  • NC_000017.11:g.7224179G>C
  • NG_007975.1:g.9346G>C
  • NG_008391.2:g.872C>G
  • NG_033038.1:g.15366C>G
  • NM_000018.4:c.1468G>CMANE SELECT
  • NM_001033859.2:c.1402G>C
  • NM_001270447.1:c.1537G>C
  • NM_001270448.1:c.1240G>C
  • NP_000009.1:p.Ala490Pro
  • NP_001029031.1:p.Ala468Pro
  • NP_001257376.1:p.Ala513Pro
  • NP_001257377.1:p.Ala414Pro
  • NC_000017.10:g.7127498G>C
  • NM_000018.3:c.1468G>C
Protein change:
A414P
Links:
dbSNP: rs759775666
NCBI 1000 Genomes Browser:
rs759775666
Molecular consequence:
  • NM_000018.4:c.1468G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.2:c.1402G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.1:c.1537G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.1:c.1240G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001247038CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(May 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247038.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021

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