NM_198173.3(GRHL3):c.1285+2del AND nonsyndromic cleft palate

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000240817.1

Allele description [Variation Report for NM_198173.3(GRHL3):c.1285+2del]

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

Gene:
GRHL3:grainyhead like transcription factor 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_198173.3(GRHL3):c.1285+2del
HGVS:
  • NC_000001.11:g.24342774del
  • NG_009308.2:g.28384del
  • NM_001195010.2:c.1147+2del
  • NM_021180.3:c.1300+2del
  • NM_198173.3:c.1285+2delMANE SELECT
  • NM_198174.3:c.1285+2del
  • NC_000001.10:g.24669264del
Links:
dbSNP: rs886037770
NCBI 1000 Genomes Browser:
rs886037770
Molecular consequence:
  • NM_001195010.2:c.1147+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_021180.3:c.1300+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_198173.3:c.1285+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_198174.3:c.1285+2del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
nonsyndromic cleft palate
Identifiers:
MedGen: CN234898

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000258553Ludwig Lab, Institute of Human Genetics, University Hospital Bonn - GRHL3 sequencingcriteria provided, single submitter
Pathogenic
(Dec 1, 2015)
inheritedresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.

Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, et al.

Am J Hum Genet. 2016 Apr 7;98(4):755-62. doi: 10.1016/j.ajhg.2016.02.013. Epub 2016 Mar 24.

PubMed [citation]
PMID:
27018475
PMCID:
PMC4833214

Details of each submission

From Ludwig Lab, Institute of Human Genetics, University Hospital Bonn - GRHL3 sequencing, SCV000258553.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 2, 2019

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