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NM_001363700.2(LIAS):c.299+1682_299+1690del

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Dec 6, 2017
Accession:
VCV000540087.1
Variation ID:
540087
Description:
9bp deletion
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NM_001363700.2(LIAS):c.299+1682_299+1690del

Allele ID
519930
Variant type
Deletion
Variant length
9 bp
Cytogenetic location
4p14
Genomic location
4: 39465284-39465292 (GRCh38) GRCh38 UCSC
4: 39466904-39466912 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.39466907_39466915del
NC_000004.12:g.39465287_39465295del
NG_032111.1:g.11243_11251del
NM_001363700.2:c.299+1682_299+1690del
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:39465283:GATATGCCTGAT:GAT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA2894707
dbSNP: rs776064587
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 6, 2017 RCV000650022.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LIAS - - GRCh38
GRCh37
214 263

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 06, 2017)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase lipoic acid synthetase deficiency
Allele origin: germline
Invitae
Accession: SCV000771859.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This variant, c.553_561del, results in the deletion of 3 amino acid(s) of the LIAS protein (p.Met185_Asp187del), but otherwise preserves the integrity of the reading frame. … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs776064587...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021