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NM_002335.4(LRP5):c.2193C>T (p.Asn731=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Oct 15, 2021)
Last evaluated:
Oct 25, 2020
Accession:
VCV000193641.6
Variation ID:
193641
Description:
single nucleotide variant
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NM_002335.4(LRP5):c.2193C>T (p.Asn731=)

Allele ID
190804
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.2
Genomic location
11: 68410015 (GRCh38) GRCh38 UCSC
11: 68177483 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.68410015C>T
NC_000011.9:g.68177483C>T
NG_015835.1:g.102376C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:68410014:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00121
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00131
Trans-Omics for Precision Medicine (TOPMed) 0.00132
The Genome Aggregation Database (gnomAD) 0.00108
Trans-Omics for Precision Medicine (TOPMed) 0.00108
The Genome Aggregation Database (gnomAD), exomes 0.00168
The Genome Aggregation Database (gnomAD) 0.00022
Links
ClinGen: CA239210
dbSNP: rs147388442
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 Oct 29, 2019 RCV000173756.4
Likely benign 2 criteria provided, single submitter Oct 25, 2020 RCV000954642.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LRP5 Some evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
849 862

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 23, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000224904.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 29, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476669.1
Submitted: (Dec 30, 2020)
Evidence details
Likely benign
(Oct 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001101287.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001978872.1
Submitted: (Oct 15, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001980614.1
Submitted: (Oct 15, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=LRP5 - - - -

Text-mined citations for rs147388442...

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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 Nov 27, 2021