NM_000018.4(ACADVL):c.636C>T (p.Ala212=) AND not specified

Clinical significance:Benign (Last evaluated: Aug 17, 2017)

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:
RCV000421031.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.636C>T (p.Ala212=)]

NM_000018.4(ACADVL):c.636C>T (p.Ala212=)

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_000018.4(ACADVL):c.636C>T (p.Ala212=)
HGVS:
  • NC_000017.11:g.7221965C>T
  • NG_007975.1:g.7132C>T
  • NG_008391.2:g.3086G>A
  • NM_000018.4:c.636C>TMANE SELECT
  • NM_001033859.2:c.570C>T
  • NM_001270447.1:c.705C>T
  • NM_001270448.1:c.408C>T
  • NP_000009.1:p.Ala212=
  • NP_001029031.1:p.Ala190=
  • NP_001257376.1:p.Ala235=
  • NP_001257377.1:p.Ala136=
  • NC_000017.10:g.7125284C>T
  • NM_000018.2:c.636C>T
  • NM_000018.3:c.636C>T
Links:
dbSNP: rs76547988
NCBI 1000 Genomes Browser:
rs76547988
Molecular consequence:
  • NM_000018.4:c.636C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001033859.2:c.570C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001270447.1:c.705C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001270448.1:c.408C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

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
SCV000522360GeneDxcriteria provided, single submitter
Benign
(Sep 15, 2016)
germlineclinical testing

Citation Link,

SCV000854775EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Aug 17, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000522360.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000854775.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Jun 14, 2021

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