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NM_002336.3(LRP6):c.2994+1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 24, 2016)
Last evaluated:
Mar 10, 2016
Accession:
VCV000225152.1
Variation ID:
225152
Description:
single nucleotide variant
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NM_002336.3(LRP6):c.2994+1G>A

Allele ID
227053
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.2
Genomic location
12: 12150835 (GRCh38) GRCh38 UCSC
12: 12303769 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.12303769C>T
NC_000012.12:g.12150835C>T
NM_002336.3:c.2994+1G>A splice donor
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs866789963
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 10, 2016 RCV000210764.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LRP6 - - GRCh38
GRCh38
GRCh37
33 70

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 10, 2016)
criteria provided, single submitter
Method: research
Tooth agenesis
(Autosomal dominant inheritance)
Allele origin: unknown
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Accession: SCV000266862.1
Submitted: (Mar 24, 2016)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Ockeloen CW Genetics in medicine : official journal of the American College of Medical Genetics 2016 PMID: 26963285

Record last updated Sep 26, 2019