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NM_133259.4(LRPPRC):c.880_882del (p.Glu294del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jun 30, 2017
Accession:
VCV000552700.1
Variation ID:
552700
Description:
3bp deletion
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NM_133259.4(LRPPRC):c.880_882del (p.Glu294del)

Allele ID
542129
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
2p21
Genomic location
2: 43974741-43974743 (GRCh38) GRCh38 UCSC
2: 44201880-44201882 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44201881_44201883del
NC_000002.12:g.43974742_43974744del
NG_008247.1:g.26263_26265del
NM_133259.4:c.880_882del MANE Select NP_573566.2:p.Glu294del
Protein change
E294del
Other names
-
Canonical SPDI
NC_000002.12:43974740:CTCC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs774622259
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 Jun 30, 2017 RCV000668009.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LRPPRC - - GRCh38
GRCh37
785 806

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 30, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: unknown
Counsyl
Accession: SCV000792550.1
Submitted: (Jul 10, 2018)
Evidence details

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 rs774622259...

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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 Oct 08, 2021