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NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Feb 20, 2018
Accession:
VCV000556818.1
Variation ID:
556818
Description:
14bp deletion
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NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs)

Allele ID
541995
Variant type
Deletion
Variant length
14 bp
Cytogenetic location
2p21
Genomic location
2: 43934825-43934838 (GRCh38) GRCh38 UCSC
2: 44161964-44161977 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44161964_44161977del
NC_000002.12:g.43934825_43934838del
NG_008247.1:g.66168_66181del
NM_133259.4:c.2545_2558del MANE Select NP_573566.2:p.Tyr849fs frameshift
Protein change
Y849fs
Other names
-
Canonical SPDI
NC_000002.12:43934824:TTATACTTTTCATA:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553400685
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 Feb 20, 2018 RCV000672873.1
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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
(Feb 20, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: unknown
Counsyl
Accession: SCV000798021.1
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 rs1553400685...

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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