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NM_004360.5(CDH1):c.752C>T (p.Thr251Met) AND Cleft lip with or without cleft palate

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001034592.1

Allele description [Variation Report for NM_004360.5(CDH1):c.752C>T (p.Thr251Met)]

NM_004360.5(CDH1):c.752C>T (p.Thr251Met)

Gene:
CDH1:cadherin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
NM_004360.5(CDH1):c.752C>T (p.Thr251Met)
HGVS:
  • NC_000016.10:g.68810261C>T
  • NG_008021.1:g.77970C>T
  • NM_001317184.2:c.752C>T
  • NM_001317185.2:c.-864C>T
  • NM_001317186.2:c.-1068C>T
  • NM_004360.5:c.752C>TMANE SELECT
  • NP_001304113.1:p.Thr251Met
  • NP_004351.1:p.Thr251Met
  • LRG_301t1:c.752C>T
  • LRG_301:g.77970C>T
  • NC_000016.9:g.68844164C>T
  • NM_004360.3:c.752C>T
  • NM_004360.4:c.752C>T
Protein change:
T251M
Links:
dbSNP: rs1454205778
NCBI 1000 Genomes Browser:
rs1454205778
Molecular consequence:
  • NM_001317185.2:c.-864C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317186.2:c.-1068C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001317184.2:c.752C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004360.5:c.752C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cleft lip with or without cleft palate
Identifiers:
MedGen: C0810364

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001197972University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicunknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, et al.

Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24.

PubMed [citation]
PMID:
29805042
PMCID:
PMC5992119

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001197972.1

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

Last Updated: Jun 23, 2024