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NM_133259.4(LRPPRC):c.3900+15C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 27, 2021)
Last evaluated:
Jul 10, 2021
Accession:
VCV000336146.5
Variation ID:
336146
Description:
single nucleotide variant
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NM_133259.4(LRPPRC):c.3900+15C>T

Allele ID
286428
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 44123758 (GRCh37) GRCh37 UCSC
2: 43896619 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44123758G>A
NC_000002.12:g.43896619G>A
NG_008247.1:g.104387C>T
NM_133259.4:c.3900+15C>T MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:43896618:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.08586 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.09733
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.10318
Trans-Omics for Precision Medicine (TOPMed) 0.09504
1000 Genomes Project 0.08586
The Genome Aggregation Database (gnomAD), exomes 0.09368
Exome Aggregation Consortium (ExAC) 0.09854
Links
ClinGen: CA1637905
dbSNP: rs76850904
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 Jul 10, 2021 RCV000370188.3
Benign 2 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV001512924.2
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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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000430596.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001720425.1
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: SCV001761802.1
Submitted: (Jul 28, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001939664.1
Submitted: (Sep 27, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 27574110)

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 rs76850904...

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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 Sep 29, 2021