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NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000138141.8
Variation ID:
138141
Description:
single nucleotide variant
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NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala)

Allele ID
141844
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 43963644 (GRCh38) GRCh38 UCSC
2: 44190783 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P42704:p.Thr478Ala
NC_000002.11:g.44190783T>C
NC_000002.12:g.43963644T>C
... more HGVS
Protein change
T478A
Other names
p.T478A:ACA>GCA
Canonical SPDI
NC_000002.12:43963643:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.02356 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01839
Exome Aggregation Consortium (ExAC) 0.00564
The Genome Aggregation Database (gnomAD) 0.01746
The Genome Aggregation Database (gnomAD), exomes 0.00474
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01884
1000 Genomes Project 0.02356
Links
ClinGen: CA291968
UniProtKB: P42704#VAR_052935
dbSNP: rs35035668
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV000223987.5
Benign 3 criteria provided, multiple submitters, no conflicts May 22, 2019 RCV001001626.3
Benign 1 criteria provided, single submitter Apr 4, 2012 RCV000126651.1
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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
(Sep 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281588.1
Submitted: (May 19, 2016)
Evidence details
Benign
(Apr 04, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000170160.10
Submitted: (Mar 26, 2018)
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
(May 22, 2019)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001159104.1
Submitted: (Aug 05, 2019)
Evidence details
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: SCV000430621.3
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 06, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001105418.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 16, 2016)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000802427.1
Submitted: (May 23, 2018)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
French-Canadian type Leigh syndrome
Allele origin: germline
Natera, Inc.
Accession: SCV001452501.1
Submitted: (Dec 28, 2020)
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 rs35035668...

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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