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NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(3);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Oct 4, 2021)
Last evaluated:
Jan 8, 2020
Accession:
VCV000226718.7
Variation ID:
226718
Description:
single nucleotide variant
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NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg)

Allele ID
230229
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.4
Genomic location
11: 72095011 (GRCh38) GRCh38 UCSC
11: 71806057 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.71806057G>C
NM_001318803.1:c.352G>C
NC_000011.10:g.72095011G>C
... more HGVS
Protein change
G118R, G100R
Other names
-
Canonical SPDI
NC_000011.10:72095010:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00359 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00473
Exome Aggregation Consortium (ExAC) 0.00493
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00531
Trans-Omics for Precision Medicine (TOPMed) 0.00378
The Genome Aggregation Database (gnomAD) 0.00453
1000 Genomes Project 0.00359
Trans-Omics for Precision Medicine (TOPMed) 0.00439
The Genome Aggregation Database (gnomAD), exomes 0.00479
Links
ClinGen: CA6168226
dbSNP: rs149637884
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Apr 30, 2012 RCV000222480.1
Likely benign 1 criteria provided, single submitter Jul 23, 2018 RCV001551008.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jan 8, 2020 RCV001001896.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LRRC51 - - - GRCh38 - 39
LRTOMT - - GRCh38
GRCh37
15 162

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 30, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000269232.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Gly118Arg in Exon 05 of LRTOMT: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (43/7020) of … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 63
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000373959.3
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
(Feb 25, 2019)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 63
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001159641.1
Submitted: (Aug 05, 2019)
Evidence details
Likely benign
(Jul 23, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001771423.1
Submitted: (Aug 05, 2021)
Evidence details
Benign
(Jan 08, 2020)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 63
Allele origin: germline
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital
Accession: SCV001984188.1
Submitted: (Oct 04, 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 rs149637884...

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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 Dec 04, 2021