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NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jul 26, 2017
Accession:
VCV000553056.1
Variation ID:
553056
Description:
4bp deletion
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NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs)

Allele ID
542192
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
2p21
Genomic location
2: 43982330-43982333 (GRCh38) GRCh38 UCSC
2: 44209469-44209472 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44209472_44209475del
NC_000002.12:g.43982333_43982336del
NG_008247.1:g.18673_18676del
NM_133259.4:c.251_254del MANE Select NP_573566.2:p.Asp84fs frameshift
Protein change
D84fs
Other names
-
Canonical SPDI
NC_000002.12:43982329:CAATCAA:CAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553413047
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jul 26, 2017 RCV000668430.1
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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
Likely pathogenic
(Jul 26, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: unknown
Counsyl
Accession: SCV000793029.1
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 rs1553413047...

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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