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NM_000018.4(ACADVL):c.277+2T>C AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002252730.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.277+2T>C]

NM_000018.4(ACADVL):c.277+2T>C

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.277+2T>C
Other names:
NM_000018.4:c.277+2T>C
HGVS:
  • NC_000017.11:g.7220678T>C
  • NG_007975.1:g.5845T>C
  • NG_008391.2:g.4373A>G
  • NG_008391.3:g.4372A>G
  • NG_135374.1:g.549T>C
  • NM_000018.4:c.277+2T>CMANE SELECT
  • NM_001033859.3:c.211+2T>C
  • NM_001270447.2:c.346+2T>C
  • NM_001270448.2:c.49+2T>C
  • NC_000017.10:g.7123997T>C
Links:
dbSNP: rs1555527745
NCBI 1000 Genomes Browser:
rs1555527745
Molecular consequence:
  • NM_000018.4:c.277+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001033859.3:c.211+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001270447.2:c.346+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001270448.2:c.49+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002524044MutSpliceDB: a database of splice sites variants effects on splicing, NIH
no classification provided
not providedsomaticresearch

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot applicablenot providednot providednot providednot providednot providedresearch

Details of each submission

From MutSpliceDB: a database of splice sites variants effects on splicing, NIH, SCV002524044.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Intron inclusion between exons 4 & 5, based on review of RNA-seq in TCGA-G4-6586-01A tumor which has ACADVL NM_000018.4:c.277+2T>C variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024