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NM_198173.3(GRHL3):c.1285+2del

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 9, 2015)
Last evaluated:
Dec 1, 2015
Accession:
VCV000219246.1
Variation ID:
219246
Description:
1bp deletion
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NM_198173.3(GRHL3):c.1285+2del

Allele ID
217267
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p36.11
Genomic location
1: 24342774 (GRCh38) GRCh38 UCSC
1: 24669264 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.24669264del
NC_000001.11:g.24342774del
NM_198173.3:c.1285+2del MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:24342773:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10575846
dbSNP: rs886037770
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 1, 2015 RCV000240817.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRHL3 - - GRCh38
GRCh37
68 85

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 2015)
criteria provided, single submitter
Method: research
nonsyndromic cleft palate
Allele origin: inherited
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn
Study: GRHL3 sequencing
Accession: SCV000258553.1
Submitted: (Dec 09, 2015)
Evidence details
Publications
PubMed (1)

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
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Mangold E American journal of human genetics 2016 PMID: 27018475

Text-mined citations for rs886037770...

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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 01, 2019