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NM_133259.4(LRPPRC):c.1155+30A>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 28, 2021)
Last evaluated:
Jul 10, 2021
Accession:
VCV000671654.3
Variation ID:
671654
Description:
single nucleotide variant
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NM_133259.4(LRPPRC):c.1155+30A>G

Allele ID
659269
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 43974120 (GRCh38) GRCh38 UCSC
2: 44201259 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44201259T>C
NC_000002.12:g.43974120T>C
NM_133259.4:c.1155+30A>G MANE Select
NG_008247.1:g.26886A>G
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:43974119:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.15715 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.20620
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.21951
The Genome Aggregation Database (gnomAD), exomes 0.14277
1000 Genomes Project 0.15715
Exome Aggregation Consortium (ExAC) 0.14637
The Genome Aggregation Database (gnomAD) 0.19924
Links
dbSNP: rs7593842
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV000830852.2
Benign 1 criteria provided, single submitter Jul 10, 2021 RCV001543316.1
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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
Benign
(Jun 18, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000972589.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001720852.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 10, 2021)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001761861.1
Submitted: (Jul 28, 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 rs7593842...

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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 Jul 30, 2021