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NM_000108.5(DLD):c.1236+1G>A 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:
RCV002260419.1

Allele description [Variation Report for NM_000108.5(DLD):c.1236+1G>A]

NM_000108.5(DLD):c.1236+1G>A

Gene:
DLD:dihydrolipoamide dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.1
Genomic location:
Preferred name:
NM_000108.5(DLD):c.1236+1G>A
Other names:
NM_000108.5:c.1236+1G>A
HGVS:
  • NC_000007.14:g.107917463G>A
  • NG_008045.1:g.31323G>A
  • NM_000108.5:c.1236+1G>AMANE SELECT
  • NM_001289750.1:c.939+1G>A
  • NM_001289751.1:c.1167+1G>A
  • NM_001289752.1:c.1092+1G>A
  • NC_000007.13:g.107557908G>A
Links:
dbSNP: rs1554400483
NCBI 1000 Genomes Browser:
rs1554400483
Molecular consequence:
  • NM_000108.5:c.1236+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001289750.1:c.939+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001289751.1:c.1167+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001289752.1:c.1092+1G>A - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002538987MutSpliceDB: a database of splice sites variants effects on splicing, NIH
no classification provided
not providedsomaticresearch

Citation Link

Help

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, SCV002538987.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Intron inclusion between exons 11 & 12, based on review of RNA-seq in TCGA-KB-A93G-01A tumor which has DLD NM_000108.5:c.1236+1G>A variant

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

Last Updated: Dec 24, 2023