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NM_133259.4(LRPPRC):c.3986-11_3986-8dup

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000550076.2
Variation ID:
550076
Description:
4bp duplication
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NM_133259.4(LRPPRC):c.3986-11_3986-8dup

Allele ID
542078
Variant type
Duplication
Variant length
4 bp
Cytogenetic location
2p21
Genomic location
2: 43889883-43889884 (GRCh38) GRCh38 UCSC
2: 44117022-44117023 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44117026_44117029dup
NC_000002.12:g.43889887_43889890dup
NG_008247.1:g.111119_111122dup
NM_133259.4:c.3986-11_3986-8dup MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:43889883:AAAGAAA:AAAGAAAGAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs764564351
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 Jan 17, 2017 RCV000664704.1
Likely benign 1 criteria provided, single submitter Nov 26, 2020 RCV001464969.1
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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
(Jan 17, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: unknown
Counsyl
Accession: SCV000788708.1
Submitted: (Jul 10, 2018)
Evidence details
Likely benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001668949.1
Submitted: (Jan 07, 2021)
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 rs764564351...

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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